Glossary for Ear symptoms

Medical terms related to Ear symptoms or mentioned in this section include:

• $1q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $2-Hydroxyglutaricaciduria$: A rare metabolic disorder characterized by high levels of a certain chemical (2-Hydroxyglutaric) which causes a serious progressive neurological disease and damage to the brain. The features of this disorder are variable and some cases are milder than others.
• $22q11.2 deletion syndrome$: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
• $2p21 deletion syndrome$: This syndrome is a more severe form hypotonia-cystinuria syndrome as a larger portion of genetic material from chromosome 2p21 is deleted. It is characterized by infant seizures, reduced muscle tone, developmental delay, lactic acidosis and unusual facial appearance.
• $2q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $3-$: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
• $3-methylglutaconic aciduria, type 4$: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3.
• $3C syndrome$: A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name.
• $3q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $46,XY chromosome 7 deletion p13-p21$: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
• $47 XYY syndrome$: A genetic condition where males have an extra Y chromosome in each of their cells. Normally male cells have one X and one Y chromosome. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
• ABCD syndrome: A rare inherited condition characterized by albinism, deafness, a black lock of hair and intestinal abnormalities.
• ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• ARTS syndrome: A rare lethal syndrome characterized by deafness, optic atrophy and ataxia.
• Abidi X-linked mental retardation syndrome: A rare genetic disorder characterized by a number of physical abnormalities
• Abruzzo Erickson syndrome: A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness.
• Accelerated hypertension: Accelerated hypertension is a condition characterized by a rapid increase in blood pressure. The condition is a medical emergency which can cause organ damage if not treated promptly.
• Acoustic neuroma: A rare benign tumor that forms in the hearing canal. Can cause tinnitus, progressive hearing loss, headaches, facial numbness, papilledema, dizziness and an unsteady walk. Speaking and swallowing difficulty can occur in advanced stages. Also called acoustic neurilemoma, acoustic neurinoma and acoustic neurofibroma.
• Acrocephalopolydactyly - Cardiac Disease - Ear, Skin and Lower Limb Defects: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Acrocephalopolydactyly II: A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation.
• Acrocephalopolysyndactyly type III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Acrocephalopolysyndactyly, type 2 (ACPS 2): A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
• Acrocephalosyndactyly Syndrome type 5: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
• Acrocephalosyndactyly type 5 (ACPS 5): A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
• Acrofacial dysostosis Catania form: One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare.
• Acrofacial dysostosis postaxial, atypical: A rare disorder characterized by an unusual facial appearance, short stature and hand and foot bone anomalies. The disorder may be related to the fact that the infants were born to mothers with diabetes.
• Acrofacial dysostosis, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
• Acrofacial dysostosis, Palagonia type: One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.
• Acroosteolysis dominant type: A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes.
• Acrorenal mandibular syndrome: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
• Acrosphenosyndactylia: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
• Acute Pesticide poisoning - xylene: Xylene is an ingredient used in certain insecticides. Exposure to the chemical can cause a range of symptoms depending on the level and route of exposure. Exposure can occur through inhalation, ingestion, the skin or eyes. Acute exposure involves a exposure over a short period of time whereas chronic exposure occurs over a longer period of time.
• Acute Tracheitis: Tracheitis is a bacterial infection of the trachea and is capable of producing airway obstruction
• Acute lower respiratory conditions: An acute condition that occurs in the lower respiratory tract
• Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma: Sudden hearing loss caused by such things as very loud noise (such as an explosion) or surgery.
• Acute upper respiratory infection: Upper respiratory tract infections, are the illnesses caused by an acute infection which involves the upper respiratory tract: nose, sinuses, pharynx or larynx
• Adenoiditis: Infection of the adenoids in the nasal-throat region
• Adenoviridae Infections: Infection with a virus from the Adenoviridae family. The most common sites for infection are membrane linings such as the intestines, respiratory and urinary tract and the eyes. The infection may result in a range of symptoms depending on the particular virus involved. Transmission usually occurs through breathing in the germs or through fecal-oral contact. The infection is contagious.
• Adenovirus infection in immunocompromised patients: Infection with a virus from the Adenoviridae family that occurs in a patient with a weakened immune system. The infection in these people is serious and can be fatal. The infection may result in a range of symptoms depending on the particular virus involved. Transmission usually occurs through breathing in the germs or through fecal-oral contact.
• Adenovirus-related Cold: An Adenovirus-related cold is a relatively minor contagious infection of the nose and throat caused by the Adenovirus. Although colds can cause discomfort they are not considered a serious condition.
• Adhesive abuse: Adhesive abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Adhesives include household glues, rubber cement and model aeroplane glue. These adhesives can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
• Adhesive addiction: Adhesive addiction refers to the compulsive need to abuse adhesives (e.g. sniffing them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Aerosols are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Adhesives includes household glue, rubber cement and model airplane glue.
• Adrenal hypertension: Adrenal hypertension is high blood pressure caused by adrenal gland problems. For example, an adrenal tumor can cause excessive production of aldosterone which in turn causes salt-retention and high blood pressure. Severity of symptoms varies depending on the underlying cause.
• Adrenoleukodystrophy, autosomal, neonatal form: A rare inherited disorder involving the adrenal glands, testes and certain parts of the brain (white matter). It is a less severe form of leukodystrophy where an abnormality within the body cells prevents the metabolism of certain fats (long chain fatty acids).
• Adverse effects on ear: The occurrence of detrimental symptoms that affect the ear
• Aerosol abuse: Aerosol abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Aerosols include air fresheners, hair spray, spray pain and deodorants. These aerosols can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
• Aerosol addiction: Aerosol addiction refers to the compulsive need to abuse aerosol (e.g. sniffing them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Aerosols are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Aerosols includes spray pain, air freshener, deodorants and hair sprays.
• Aerotitis syndrome: Trauma to the blood vessels in the ears caused by rapid changes in atmospheric pressure. Blockage of the Eustachian tube in the ear prevents equalization of air pressure and a vacuum develops inside the ear. Yawning or chewing can sometimes alleviate symptoms by opening up the Eustachian tube.
• Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
• Agammaglobulinemia, microcephaly, and severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
• Agenesis of the corpus callosum - mental retardation - coloboma - micrognathia: A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly.
• Aggressive fibromatosis - parapharyngeal space: A type of tumor that occur near in the space around the pharynx and is locally invasive but not malignant. They tend to occur mainly in the head and neck region and symptoms depend on the exact location and aggressiveness of the tumor. Tumors often reoccur after surgical removal which then requires further treatment with radiation and chemotherapy.
• Aging: The medical conditions from getting older.
• Agnathia-holoprosencephaly-situs inversus: A very rare disorder characterized by a small or absent jaw, developmental brain defect and internal organs situated on the wrong side of the body (situs inversus). The severity and range of symptoms is variable.
• Aksu von Stockhausen syndrome: A rare condition observed in a Turkish family and characterized by various head and neck malformations that have resulted from abnormal development of the branchial arches.
• Al Awadi syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis.
• Al Gazali Hirschsprung syndrome: A rare disorder characterized by Hirschsprung disease (an intestinal disorder), nail abnormalities and facial anomalies.
• Albers-Schonberg disease - malignant recessive form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
• Albinism ocular late onset sensorineural deafness: A rare inherited condition characterized by a lack of eye pigmentation and deafness that usually starts in middle-age. Severity of symptoms is variable.
• Alcohol-induced hypertension: Alcohol-induced hypertension is high blood pressure caused by excessive drinking of alcohol.
• Allain Babin Demarquez syndrome: A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
• Allan-Herndon-Dudley Syndrome: A very rare inherited disorder characterized primarilty by mental retardation.
• Alopecia mental retardation syndrome: A rare syndrome characterized primarily by a lack of hair and mental retardation.
• Alopecia, anosmia, deafness, hypogonadism syndrome: A rare
• Alpha-mannosidosis type II: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage. This form of the condition is less severe than type I (infantile form).
• Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
• Alport syndrome - mental retardation - midface hypoplasia - elliptocytosis: A rare syndrome characterized by the association of Alport syndrome, mental retardation, underdeveloped midface and a blood abnormality (elliptocytosis). Alport syndrome is an inherited condition involving progressive kidney damage and hearing loss.
• Alport syndrome with leukocyte inclusions and macrothrombocytopenia: A rare condition characterized by the presence of large blood platelets, kidney inflammation, deafness and abnormal leukocytes. End-stage kidney disease occurs in about a third of patients and tends to occur during the 3rd and 4th decades of life.
• Alport syndrome with macrothrombocytopenia: A rare inherited syndrome characterized by progressive kidney damage and hearing loss as well as macrothrombocytopenia.
• Alstrom syndrome: A rare, hereditary genetic disorder which is progressive. Initial symptoms in infants are usually extreme light sensitivity, wobbling of the eyes and sometimes dilated dilated cardiomyopathy and congestive heart failure. Young children quickly gain weight and become obese and as they get older, multiple organ systems may be affected causing blindness, hearing loss, type 2 diabetes, heart failure, liver disease, urological dysfunction, pulmonary fibrosis and renal failure.
• Amastia, bilateral, with ureteral triplication and dysmorphism: A very rare disorder characterized mainly by the absence of both breasts, triplicated ureters (normally they are duplicated), facial anomalies and various other defects.
• Aminopterin - Teratogenic Agent: There is strong evidence to indicate that exposure to ? during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Amlodipine - Teratogenic Agent: There is strong evidence to indicate that exposure to Amlodipine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Amphetamine-induced hypertension: Amphetamine-induced hypertension is high blood pressure caused by use of amphetamines. Patients with an existing history of hypertension may suffer further blood pressure increases while taking amphetamines and this can be serious. Severity of symptoms varies amongst patients depending on their susceptibility, underlying health and duration of amphetamine use.
• Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
• Amyloidosis, oculoleptomeningeal: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this particular type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages and vision impairment.
• Ancylostoma duodenale: An infestation with Ancylostoma duodenale which is a parasitic hookwork whichcan cause serious disease in humans - usually occurs in people who work barefoot in damp soil. The hookworms suck blood from the intestines of the host which can result in anemia if there is a large number of worms.
• Andersen-Tawil syndrome: A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium.
• André syndrome: A rare fatal syndrome characterized mainly by bone calcification abnormalities and facial anomalies. Death usually occurs within weeks of birth.
• Anemia, Iron-Deficiency: A lack of fully functioning red blood cells due to a deficiency of iron. The iron allows the body to make hemoglobin in red blood cells which in turn allows the red blood cell to carry oxygen.
• Anemia, Refractory, with Excess of Blasts: A bone marrow disease which results in insufficient red blood cells in the blood (anemia). The prognosis is poor with death usually occurring within a couple of years. There are two types: type 1 refers to cases where the level of blasts is less than 10% and type 2 refers to cases where the level of blasts is 10-20%. When too many immature blood cells (blasts) are produced by the bone marrow, the condition may progress to acute myeloid leukemia - occurs in about a quarter of cases in type 1 and a third of cases in type 2.
• Anemia, Refractory, with Excess of Blasts, type 1: A bone marrow disease which results in insufficient red blood cells in the blood (anemia). The prognosis is poor with death usually occurring within a couple of years. Type 1 refers to cases where the level of blasts is less than 10% and type 2 refers to cases where the level of blasts is 10-20%. When too many immature blood cells (blasts) are produced by the bone marrow, the condition may progress to acute myeloid leukemia - occurs in about a quarter of cases in type 1.
• Anemia, Refractory, with Excess of Blasts, type 2: A bone marrow disease which results in insufficient red blood cells in the blood (anemia). The prognosis is poor with death usually occurring within a couple of years. Type 1 refers to cases where the level of blasts is less than 10% and type 2 refers to cases where the level of blasts is 10-20%. When too many immature blood cells (blasts) are produced by the bone marrow, the condition may progress to acute myeloid leukemia - occurs in about a third of cases in type 2.
• Anencephaly: A birth defect where large parts of the brain is missing and the brainstem is malformed.
• Angelman-Like Syndrome, X-linked: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Ankylosis - facial anomalies - pulmonary hypoplasia syndrome: A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs.
• Anophthalmia - hypothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
• Anophthalmia - hypyothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
• Anophthalmia - megalocornea - cardiopathy - skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
• Anterior spinal artery syndrome: Neurological symptoms caused by the blockage of the anterior spinal artery. The blockage may be caused by such things as trauma, cancer, thrombosis and arterial disease. Symptoms are determined by the exact location of the blockage.
• Apert syndrome: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
• Aplastic anemia: A blood disorder where the bone marrow produces insufficient new blood cells.
• Arachnoid Cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the spinal cord and brain. The type and severity of symptoms is determined by the size and location of the cyst.
• Arnold-Chiari malformation type 4: Arnold-Chiari malformation is a rare malformation where the base of the brain enters into the upper spinal canal. Type 4 actually involves a lack of development of a portion of the base of the brain (cerebellum). The prognosis is very poor with death often occurring during infancy.
• Arthritis - short stature - deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
• Arthrogryposis IUGR thoracic dystrophy: A very rare syndrome characterized by congenital joint contractures, intrauterine growth retardation (IUGR) and ribcage abnormalities.
• Arthrogryposis multiplex congenita - pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Arthrogryposis multiplex with deafness, inguinal hernias, and early death: A rare syndrome characterized multiple joint contractures throughout the body, deafness, inguinal hernias and death usually within months of birth.
• Arthrogryposis-like hand anomaly - sensorineural deafness: A rare disorder characterized by hand contractures and deafness.
• Aspergillus niger infection: A rare fungal infection that often causes a black mould to appear on some fruit and vegetables but may also infect humans through inhalation of fungal spores.
• Ataxia - diabetes - goiter - gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Ataxia deafness reardon type: A rare syndrome observed in a Kuwati family characterized by ataxia, deafness and mental retardation.
• Ataxia, Hereditary, Autosomal Dominant: A group of rare, dominantly inherited neuromuscular disorder involving degeneration of the brain and spinal cord. The range, progression and severity of symptoms can vary quite considerably depending on the genetic defect involved.
• Ataxia, episodic - vertigo - tinnitus - myokymia: A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as tinnitus and vertigo. Stress, exhaustion, sudden movements and exertion may trigger the episodes. It is caused by a defect on chromosome 1q42.
• Ataxia-deafness syndrome: A rare syndrome characterized by the association of ataxia with deafness.
• Athabaskan brainstem dysgenesis: A rare neurological disorder caused by abnormal brainstem development and function.
• Athabaskan severe combined immunodeficiency: A severe immunodeficiency disorder found in Navajo and Apache populations.
• Atherosclerosis, premature - deafness - diabetes mellitus - photomyoclonus - nephropathy - degenerative neurologic disease: A rare syndrome characterized mainly by deafness, diabetes, epilepsy, kidney disease and premature hardening of the arteries.
• Atherosclerosis- deafness - diabetes - epilepsy - nephropathy: A rare syndrome characterized mainly by deafness, diabetes, epilepsy, kidney disease and premature hardening of the arteries.
• Ativan withdrawal: Symptoms that occur when Ativan (Lorazepam) use is discontinued or reduced. Ativan is an anti-anxiety drug. Symptoms may vary depending on the level of dependence.
• Auditory Processing Disorder: Failure of the brain to correctly process sound.
• Auditory neuropathy: A hearing disorder caused by impaired nerve signals from the inner part of the ear to the brain.
• Aural atresia - multiple congenital anomalies - mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
• Auralcephalosyndactyly: A very rare syndrome characterized by ear abnormalities, premature fusion of skull bones and syndactyly (fusion of digits).
• Auriculo-condylar syndrome: A rare syndrome characterized by variable ear and jaw abnormalities.
• Autism: Childhood mental condition with social and communication difficulties.
• Autoimmune inner ear disease: A rare disorder where the body's own immune system attacks the inner ear.
• Autosomal Dominant Charcot-Marie-Tooth with hearing loss: A dominantly inherited form of Charcot-Marie-Tooth disease which also involves hearing loss. Charcot-Marie-Tooth disease is a progressive nerve disease that affects the peripheral nerves and hence the muscles primarily in the limbs.
• Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
• BANF acoustic neurinoma: A type of tumor that affects hearing and is associated with a condition called BANF (bilateral acoustic neurofibromatosis). The tumor is benign an occurs in the cells that form the myelin sheath of the vestibulocochlear nerve. The symptoms vary depending on the size and exact location of the nerve. The tumor may become large enough to compress against various cranial nerves or even the brainstem.
• BBB syndrome, X-linked: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner. Females with type I tend to have few if any symptoms - often the only symptom is wide-set eyes.
• BOR syndrome: A rare genetic disorder characterized by hearing loss, kidney malformations and branchial arch anomalies. There are two subtypes with different genetic defect origins.
• BOR-Duane hydrocephalus contiguous gene syndrome: A very rare syndrome characterized primarily by an eye movement disorder (Duane syndrome), abnormal trapezius muscle (runs from neck to shoulder), hydrocephalus and BOR syndrome (branchio-oto-renal syndrome with branchial, eye and kidney abnormalities).
• Bagatelle-Cassidy syndrome: An extremely rare syndrome characterized by a large head, widely spaced eyes, hearing loss, short limbs and developmental delay.
• Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Barakat syndrome: A rare condition characterized by deafness, kidney disease and insufficiency parathyroid hormone production.
• Barbiturate abuse: Abuse of barbiturate medications
• Barotitis Media: Middle ear inflammation or bleeding caused by differences between the middle ear air pressure and atmospheric air pressure. Can be caused by such things as scuba diving and symptoms include pain, tinnitus, diminished hearing and vertigo. Also called aerotitis media.
• Barotrauma: Damage to the lungs, ear or sinuses caused by rapid or extreme changes in air pressure.
• Barre-Lieou syndrome: A rare condition where trauma (such as pinching by adjacent vertebrae or arthritis) to the sympathetic nerves located in the spinal area of the neck results in a variety of neurological symptoms.
• Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.
• Basilar artery migraine: Basilar migraine (BM), also known as Bickerstaff syndrome, consists of headache accompanied by dizziness, ataxia, tinnitus, decreased hearing, nausea and vomiting, dysarthria, diplopia, loss of balance, bilateral paresthesias or paresis, altered consciousness, syncope, and sometimes loss of consciousness.
• Battle's sign: ecchymosis over the mastoid process of the temporal bone.
• Bell's palsy: A one sided muscle paralysis of sudden onset due to a problem with the facial nerve
• Benazepril - Teratogenic Agent: There is strong evidence to indicate that exposure to Benazepril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Benign Paroxysmal Positional Vertigo: A condition where certain head movements cause extreme dizziness.
• Benzodiazepine abuse: Abuse of benzodiazepine tranquiliser medications
• Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.
• Beta-mannosidosis: A very rare type of inherited glycoprotein storage disease where deficiency of an enzyme called beta-mannosidase results in a build-up of certain sugars (oligosaccharides) which can harm the body.
• Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
• Biotinidase deficiency, late onset: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes. The severity of symptoms may vary depending on the degree of deficiency. Severe cases can result in metabolic acidosis which can lead to death if treatment isn't given.
• Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Birth Injury: An injury to the mother caused by childbirth
• Birth symptoms: Symptoms related to childbirth.
• Bjornstad syndrome: An inherited condition characterized by twisted hairs and nerve deafness.
• Blastoma: A type of tumor that originates from precursor cells or blasts (immature or embryonic tissue). The symptoms can vary greatly and are determined by the part of the body that is affected. Blastomas can occur in parts of the body such as the brain, liver, kidneys, nervous system, bones and the retina.
• Bleeding from ear: Bleeding out of an ear
• Blepharophimosis - nasal groove - growth delay: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
• Blepharophimosis - nasal groove - growth retardation: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
• Blepharophimosis telecanthus microstomia: A rare syndrome characterized by a flat face, small mouth and ear anomaly as well as a range of other abnormalities.
• Bone dysplasia - corpus callosum agenesis: A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities.
• Bonnier's syndrome: A range of symptoms caused by damage to Dieter's nucleus (the lateral nucleus of the vestibular nerve) or its connections.
• Borjeson Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
• Borud Syndrome: A very rare syndrome characterized by numerous features including hearing and vision problems, heart muscle disease, ataxia and peripheral neuropathy.
• Bosley-Salih-Alorainy syndrome: A rare recessively inherited disorder involving inner and outer ear deformity, eye movement disorder, deafness, cardiovascular malformations and other anomalies. The range and severity of symptoms is variable.
• Boudhina-Yedes-Khiari syndrome: A very rare syndrome characterized primarily by short stature, small head, mental deficiency, seizures, hearing loss and skin lesions.
• Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
• Brachycephaly - deafness - cataract - mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
• Brachycephaly - deafness - cataract - microstomia - mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
• Brachydactyly - dwarfism - mental retardation: A very rare syndrome characterized by short fingers, very short stature and mental retardation.
• Brailsford: A rare inherited skeletal disorder characterized by short hand and foot bones which may also be deformed. Other anomalies are also present.
• Brain Fag syndrome: A type of neurotic disorder that was first observed in white collar workers in Africa.
• Brain symptoms: Symptoms affecting the brain
• Brain tumor, adult: A growth or tumor that develops in the tissues of the brain in adults. The tumor can be benign or malignant.
• Branchial arch syndrome X-linked: A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects.
• Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and: A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of upper lip.
• Branchio-Oculo-Facial Syndrome: A rare genetic disorder characterized by branchial defects, lacrimal duct obstruction and pseudocleft of upper lip.
• Branchio-oto-renal (BOR) syndrome, type 2: A rare genetic disorder characterized by abnormal kidney development and varying degrees of hearing impairment. Type 2 involves a defect on the SIX5 gene on chromosome 19q13.3.
• Branchiootic syndrome: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset.
• Branchiootic syndrome 1: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset. Type 1 is caused by a defect on the EYA1 gene on chromosome 8q13. It is similar to the branchio-oto-renal syndrome except it doesn't involve any kidney abnormalities.
• Branchiootic syndrome 2: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset. Type 2 is caused by a defect chromosome 1q31. It is similar to the branchio-oto-renal syndrome except it doesn't involve any kidney abnormalities.
• Branchiootic syndrome 3: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset. Type 3 is caused by a defect chromosome 14q23. It is similar to the branchio-oto-renal syndrome except it doesn't involve any kidney abnormalities.
• Broken jaw: Fracture of the jaw bone (mandible)
• Bronchopulmonary dysplasia: A condition which is characterized by dysplasia of the brochopulmonary vessels
• Burn-McKeown syndrome: A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies.
• Buzzing in ears: The occurrence of buzzing in the ears
• Bárány syndrome: A rare syndrome characterized by various symptoms associated with a headache that occurs on one side of the back of the head.
• C-like syndrome: A rare disorder involving poor fetal growth, limb and facial defects and severe developmental delay.
• CDG syndrome type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
• CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
• CMV antenatal infection: A rare condition where a fetus becomes infected with the cytomegalovirus through the mother.
• Campomelic dwarfism: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
• Campomelic dysplasia: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
• Camptodactyly syndrome, Guadalajara type 1: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.
• Camurati Engelmann disease, type 2: A rare disorder (described in two patients) which has similar symptoms to the genetic condition called Camurati Engelmann disease but the genetic defect responsible for type 1 is not present in type 2. Type 2 has additional bone abnormalities which were noted on radiographs. Patients tend to suffer flare-ups of their condition which is accompanied by severe pain which may leave the patient incapacitated. Flare-ups can be triggered or made worse by stress, exhaustion, exercise, growth spurts, standing too long, walking too long, infection, illness, injury, surgery, cold weather and sudden changes in air pressure.
• Camurati-Engelmann Disease: A very rare genetic disease thickening of areas of bone causing pain, weakness and wasting. Usually affects the legs during childhood. Also called diaphyseal dysplasia.
• Canavan disease: Rare genetic degenerative brain disease in infants.
• Canavan leukodystrophy: A rare inherited disorder where a chemical imbalance in the brain leads to spongy degeneration of the central nervous system which results in progressive mental deterioration and associated symptoms.
• Captopril - Teratogenic Agent: There is strong evidence to indicate that exposure to Captopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cardioauditory syndrome of Sanchez- Cascos: A rare syndrome characterized mainly by heart and hearing abnormalities. The deafness was present at birth or soon after.
• Cardiocranial syndrome: A rare syndrome characterized mainly by heart and skull abnormalities.
• Cardiomyopathy - hearing loss, type t RNA lysine gene mutation: A rare inherited disorder characterized by heart muscle disease and deafness. The deafness is inherited from the mother and is caused by a genetic defect. Patients may be asymptomatic for a number of years. The rate of progression of the disorder is variable with some patients being asymptomatic until adulthood.
• Cardiomyopathy - hypogonadism - metabolic anomalies: A rare syndrome characterized mainly by heart muscle disease, hypogonadism, blindness, deafness and metabolic anomalies. Puberty was normal despite the hypogonadism.
• Cardiomyopathy diabetes deafness: A rare syndrome characterized by the association of heart muscle disease, diabetes and deafness.
• Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
• Cartilaginous - arthritic - ophthalmic - deafness syndrome: A rare syndrome characterized by the association of eye, joint and cartilage disease as well as deafness.
• Cataract deafness hypogonadism: A very rare syndrome characterized mainly by deafness, cataracts and a deficiency of sex hormone production.
• Caudal appendage - deafness: A very rare syndrome characterized mainly by deafness, finger bone abnormalities and a spinal extension giving a tail-like appearance (caudal appendage).
• Cauliflower ear: Ear deformity from ear trauma; common in boxers
• Cerebellar atrophy with progressive microcephaly: A very rare disorder characterized mainly by a small brain, small head, underdeveloped brain, brain degeneration, contractures, eye problems and seizures.
• Cerebellar hypoplasia: A rare brain disorder where a part of the brain (cerebellum) fails to develop fully. The cerebellum is the part of the brain that controls balance and movement.
• Cerebral Palsy: Any brain disorder causing movement disability
• Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome: A rare disorder characterized by abnormal brain development, neurological problems, scaly skin and thickened skin on the palms and soles.
• Cerebrocostomandibular Syndrome: A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities.
• Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
• Cervicooculoacoustic syndrome: A rare genetic disorder characterized by ocular palsy, congenital perceptive deafness and fusion of the vertebrae in the neck.
• Char syndrome: A very rare genetic disorder characterized mainly by an unusual facial appearance, abnormal little fingers and a heart abnormality.
• Charcot-Marie-Tooth Disorder: Degeneration of limb muscles.
• Charcot-Marie-Tooth disease - deafness: Charcot-Marie-Tooth disease is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Charcot-Marie-Tooth disease and deafness involves the usual CMT symptoms as well as deafness.
• Charcot-Marie-Tooth disease deafness recessive type: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4D is inherited recessively and is caused by a defected in a gene in chromosome 8 and is a severe form of the disease that also involves deafness.
• Charcot-Marie-Tooth disease, Type 1E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1E involves the usual CMT symptoms as well as deafness.
• Charcot-Marie-Tooth disease, Type 2J: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2J has an autosomal dominant inheritance and involves a defect on chromosome 1q22.
• Charcot-Marie-Tooth disease, X-linked: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X2 is an inherited defect of the X chromosome and affects males to a greater degree than females.
• Charcot-Marie-Tooth disease, X-linked recessive, 4: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4X is an inherited defect of the X chromosome and affects males to a greater degree than females and also involves mental retardation and deafness.
• Charcot-Marie-Tooth disease, X-linked recessive, 5: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X5 is an inherited defect of the X chromosome and affects males to a greater degree than females. In addition to normal CMT symptoms it also involves deafness and eye problems.
• Chemical poisoning - Acetylsalicylic Acid: Acetylsalicylic Acid is also known as aspirin and is primarily used to relieve pain, fever and inflammation. Excessive exposure to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Aniline: Aniline is a chemical used mainly in the manufacture of perfumes, varnishes, resins, dyes, paint removers, herbicides, fungicides, explosives, solvents and photographic chemicals. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Benzene: Benzene is a chemical used mainly in gasoline fuel and as an industrial solvent. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Bromates: Bromate is a chemical used mainly in perming solution neutralizers and in small amounts as a bread preservative. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Butyl Alcohol: Butyl alcohol is a chemical used mainly in solvents and in pharmaceutical manufacturing processes. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Dichlorphenamide: Dichlorphenamide is a chemical used mainly as a treatment for glaucoma. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Hexane: Hexane is a chemical used mainly in the manufacture of products such as glue, paint, shoes and furniture. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Lead-containing Paint: Lead pain contains lead as well as other harmful chemicals. The lead in the pain is toxic (especially to young children) and ingesting fresh or old paint can cause serious symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Methanol: Methanol is a chemical used mainly in fuel, paint removers, solvent, antifreeze and in the production process of many other products. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Tetrahydrofuran: Tetrahydrofuran is a chemical used mainly as a plastic solvent and in the processing of varnish, ink, paint and glue. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Toluene: Toluene is a chemical used mainly in pesticides, degreasers, glues and pain removers. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chiari Malformation: Protrusion of the brain down the spinal column.
• Chilblain: Skin inflammation usually in cold weather
• Chitty Hall Baraitser syndrome: A very rare syndrome characterized by short stature (due to abnormal development of ends of thigh bones), deafness, blocked tear ducts and thing bone abnormalities.
• Choanal atresia - deafness - cardiac defects - dysmorphia: A rare birth disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and facial anomalies.
• Choanal atresia - deafness - cardiac defects - dysmorphism: A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies.
• Cholesteatoma: Uncommon middle ear condition
• Chondrodysplasia - disorder of sex development: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
• Chondrodysplasia - pseudohermaphrodism: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
• Chondrodysplasia, type Nance-Sweeney: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Choroideremia: A rare, inherited, progressive eye disease that causes degeneration of the retina and blindness. The disease usually only affects males.
• Chromosome 1, 1p36 deletion syndrome: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact location of chromosomal deletion.
• Chromosome 1, deletion q21 q25: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, osteoporosis, facial anomalies and hearing loss.
• Chromosome 1, monosomy 1p22 p13: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, short stature, hearing loss and hand defects.
• Chromosome 1, monosomy 1p32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, clubfoot an umbilical hernia.
• Chromosome 1, monosomy 1p34 p32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, fingernail anomalies and testicular problems.
• Chromosome 1, monosomy 1q25 q32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as digital defects, facial dysmorphism, retarded growth, mental retardation and spasticity.
• Chromosome 1, monosomy 1q32 q42: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as fetal or newborn death, facial dysmorphism, short stature, finger defects and various other anomalies.
• Chromosome 1, trisomy 1q32 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities.
• Chromosome 1, trisomy 1q42 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction, short stature, mental retardation and narrowing of the pulmonary arteries and valves.
• Chromosome 1, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 10 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 10 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 10, trisomy 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
• Chromosome 10p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Chromosome 10p duplication/10q deletion syndrome: A rare chromosomal disorder where a section of the short arm (p) of chromosome 10 is duplicated and a section of the long arm (q) of chromosome 10 is deleted resulting in various abnormalities.
• Chromosome 11q partial deletion: A rare chromosomal disorder where a portion of chromosome 11 is missing and is characterized by trigonencephaly, heart defects and a large, carp-shaped mouth.
• Chromosome 12, Isochromosome 12p Mosaic: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Chromosome 12p deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 12p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities.
• Chromosome 12p partial deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 12p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities.
• Chromosome 13 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 13 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 13 rather than the normal two resulting in various abnormalities. Most die within months and there are few survivors after 10 years.
• Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 13q partial deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 14 trisomy: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 14 trisomy syndrome: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities.
• Chromosome 14 uniparental disomy syndrome: A rare chromosomal disorder where two homologues are obtained from one parent.
• Chromosome 14, trisomy mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
• Chromosome 14q deletion syndrome: A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
• Chromosome 15 inverted duplication: A rare chromosomal disorder involving an duplicated section of chromosome 15 which is reversed end-to-end resulting in various abnormalities.
• Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 15q tetrasomy syndrome: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities.
• Chromosome 15q, tetrasomy: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is involved.
• Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 16p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 16q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 16q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material. Severe cases often result in spontaneous abortion or infant death.
• Chromosome 17 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 17 trisomy mosaicism: A rare chromosomal disorder where there are three copies of chromosome 17 in some of the body's cells. The type of symptoms and severity is determined by the number of cells that have the three copies. Some cases have no obvious symptoms.
• Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 17q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 18 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 18 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 18 deletion syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing.
• Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.
• Chromosome 18, deletion 18q23: A very rare syndrome caused by a deletion of a part of the material on chromosome 18 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation. The abnormalities vary from patient to patient.
• Chromosome 18, trisomy 18q: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 19 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 19 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 19p duplication syndrome: A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities.
• Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 2, monosomy 2pter p24: A very rare chromosomal disorder where a portion of chromosome 2 is deleted resulting in a range of birth defects and abnormalities.
• Chromosome 2, monosomy 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 2, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
• Chromosome 2, trisomy 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 20 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 20 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 20p, partial duplication: A rare chromosomal disorder where a copy of the short arm of chromosome 20 has been triplicated instead of duplicated resulting in various anomalies.
• Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
• Chromosome 21q deletion syndrome: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 21 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 22 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 22 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 22 monosomy syndrome: A rare chromosomal disorder where there is only one copy of chromosome 22 in the body cells instead of two which results in various physical and mental abnormalities.
• Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
• Chromosome 22, microdeletion 22q11: A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted.
• Chromosome 22, monosome mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 22, monosomy mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies.
• Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
• Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
• Chromosome 22q11 deletion: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
• Chromosome 22q11.2 microduplication: A rare chromosomal disorder where a part of the chromosome 22 genetic material at the q11.2 location is duplicated resulting in various anomalies ranging from mild to severe amongst different patients.
• Chromosome 2p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 2p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 3, Monosomy 3p2: A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. Symptoms vary according to the exact size and location of the deletion.
• Chromosome 3, monosomy 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and polydactyly.
• Chromosome 3, monosomy 3p25: A rare chromosomal disorder characterized by mental retardation, short stature, deafness, extra digits, facial anomalies and various other abnormalities.
• Chromosome 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
• Chromosome 3, trisomy 3q13 2 q25: A rare chromosomal disorder characterized by various abnormalities including hearing loss, mental retardation, short stature, obesity and uterine and facial anomalies.
• Chromosome 4 ring syndrome: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
• Chromosome 4, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.
• Chromosome 4, trisomy 4q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 4, trisomy 4q25 qter: A rare chromosomal disorder involving the duplication of a portion of the long arm of chromosome 4.
• Chromosome 4q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 5, trisomy 5q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 5p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 5 rather than the normal two copies.
• Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
• Chromosome 5q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 6 ring syndrome: A rare chromosomal disorder where the ends of chromosome 6 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
• Chromosome 6, monosomy 6p23: A very rare chromosomal disorder characterized by various abnormalities including mental retardation, facial, finger and toe anomalies as well as heart, skeletal and neurological problems.
• Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 6, trisomy 6p: A very rare chromosomal disorder where a part of the short arm (p) of chromosome 6 is duplicated resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 6, trisomy 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 6p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 6 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 6q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 7 ring syndrome: A rare chromosomal disorder where the ends of chromosome 7 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
• Chromosome 7, Partial Deletion of Short Arm: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Chromosome 7, partial monosomy 7p: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Chromosome 7, trisomy 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Chromosome 7, trisomy 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 7p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 7p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Chromosome 7q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
• Chromosome 8 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.
• Chromosome 8, monosomy 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 8, mosaic trisomy: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Chromosome 8, trisomy: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
• Chromosome 8p mosaic tetrasomy: A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body's cells instead of the normal two resulting in various abnormalities.
• Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 9 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities.
• Chromosome 9, Trisomy 9p (Multiple Variants): A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities.
• Chromosome 9, partial trisomy 9p: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Chromosome 9, trisomy: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 9, trisomy 9q: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Chromosome 9, trisomy 9q32: A rare chromosomal disorder where duplication of a portion of chromosome 9 causes various abnormalities such as short stature and mental retardation and facial anomalies.
• Chromosome 9/mosaic: A rare chromosomal disorder where chromosome 9 is duplicated in some of the body's cells resulting in various abnormalities determined by the type and number of cells that contain the extra genetic material.
• Chromosome 9q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 9 is deleted resulting in variable symptoms.
• Chromosome 9q duplication: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Chromosome 9q duplication/chromosome 9p deletion syndrome: A rare chromosomal disorder where part of the long arm (q) of chromosome 9 is duplicated and part of the short arm (p) is deleted resulting in various abnormalities. These chromosomal abnormality occurs in only some of the body's cells (mosaicism).
• Chronic Myeloproliferative Disorders: A group of blood cancers where excessive numbers of blood cells are made by overactive or cancerous bone marrow. The number of excess blood cells tends to grow slowly. Examples of such disorders includes chronic myelogenous leukemia, polycythemia vera and essential thrombocythemia. The symptoms are determined by which particular blood cancer is involved.
• Chronic laryngotracheitis: It is inflammation of the mucous membrane lining the larynx, which is located in the upper part of the respiratory tract and the trachea which may cause respiratory obstruction.
• Ciliary dyskinesia, due to transposition of ciliary microtubules: A very rare disorder where the cilia fail to move adequately due to abnormal cilia structure. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Clark-Baraitser syndrome: A very rare syndrome characterized mainly by tallness, large head, mental retardation and various facial anomalies.
• Classic childhood ALD: Classic severe form of ALD in boys.
• Classic migraine: Migraine is a neurological disorder that generally involves repeated headaches. Some people also have nausea, vomiting, and other symptoms. Most people with migraines do not have any warning before it occurs. However, some people have a visual disturbance called an aura before the headache starts.
• Classical Potter syndrome: A term that describes the physical appearance that occurs when kidney disease results in a reduced volume of amniotic fluid. In the classical type, both kidneys are absent.
• Clear urine: Urine that is clear or less yellow
• Cleft lip palate - deafness - sacral lipoma: A very rare syndrome characterized mainly by an opening in the palate and lip, deafness and a lipoma in the end portion of the spine.
• Cleft lower lip cleft lateral canthi chorioretinal: A rare inherited disorder characterized by deafness at birth and corneal dystrophy which impairs vision. Other variable symptoms may be present.
• Cleft palate: This when there is a congenital fissure of the median line of the palate.
• Cleft palate - cardiac defect - genital anomalies - ectrodactyly: A very rare syndrome characterized by variable symptoms including cleft palate, heart defects, genital anomalies and hand and foot malformations.
• Cleft palate - coloboma - deafness: A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness.
• Cleft palate - stapes fixation - oligodontia: A very rare syndrome characterized by an opening in the roof of the mouth (cleft palate, the absence of six or more permanent teeth and hearing loss due to an inner ear abnormality (stapes fixation).
• Cleft palate colobomata radial synostosis deafness: A very rare syndrome characterized mainly by a cleft palate, fused forearm bone, deafness and colobomata.
• Cleft palate, bilateral choanal atresia, curly hair and congenital hypothyroidism: A rare syndrome characterized by the association of curly, choanal atresia, cleft palate and congenital hypothyroidism.
• Cobalt poisoning: A type of heavy metal poisoning caused by excessive exposure to cobalt.
• Cocaine-induced hypertension: Cocaine-induced hypertension is high blood pressure caused by use of cocaine. Patients with an existing history of hypertension may suffer further blood pressure increases while taking cocaine and this can be serious. Severity of symptoms varies amongst patients depending on their susceptibility, underlying health and duration of cocaine use.
• Cochleosaccular degeneration of the inner ear and progressive cataracts: A very rare syndrome characterized by cataracts and progressive damage of certain inner ear structures (cochlea and saccule) which results in progressive deafness and vision problems.
• Coenzyme Q 10 (CoQ10), deficiency: A rare inherited disorder characterized by the deficiency of Coenzyme Q 10. The range and severity of symptoms is variable.
• Coenzyme Q cytochrome c reductase deficiency of: A rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as cardiomyopathy, fatal infant conditions and Leber's myopathy.
• Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
• Cogan's syndrome: A disorder primarily involving eye inflammation and hearing impairment and dizziness. Complete deafness usually occurs within a couple of years. The disorder is caused by inflammation of the arteries in the ear. Sometimes arteries in other parts of the body may also be affected e.g. skin, kidneys and other organs.
• Cohen Syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth.
• Cold antibody hemolytic anemia: A rare autoimmune condition where the body's defense system attacks and destroys red blood cells. The onset of the condition is triggered by temperatures 30ºC or lower.
• Cold-like symptoms: Symptoms similar to the common cold.
• Coleman Randall syndrome: A rare condition (one reported case) characterized by deafness, underdeveloped gonads, pili torti and a deficiency of growth and luteinizing hormone.
• Collagenopathy, type 2 alpha 1: Collagenopathy, type 2 alpha 1refers to a wide range of conditions that can result from problems with cartilage collagen tissue due to a defect in the COL2A1 gene. Defects in the COL2A1 gene result in defective or reduced collagen production which in turn affects the development of connective tissues including bones. There are a wide range of possible conditions and symptoms. Some of the conditions include: spondyloepiphyseal dysplasia congenita, Stickler Syndrome, hypochondrogenesis and Kneist dysplasia.
• Colobomatous microphthalmia - heart disease - hearing loss: A very rare syndrome characterized by small eyes, heart disease and hearing loss.
• Common Variable Immunodeficiency: An immunodeficiency disorder involving low blood gamma globulin levels which results in an increased susceptibility to infections. The condition may be inherited or can be caused by certain drugs (levamisole, hydantoin and carbamazepine).
• Common migraine: Migraine headaches are recurrent headaches that may be unilateral or bilateral. Migraine headaches may occur with or without a prodrome. The aura of a migraine may consist of neurologic symptoms, such as dizziness, tinnitus, scotomas, photophobia, or visual scintillations (eg, bright zigzag lines).
• Complete Trisomy 18 syndrome: Complete Trisomy 18 syndrome is the most severe form of Edwards syndrome and involves an extra copy of chromosome 18 in all of the body cells. This severe form causes mental retardation and numerous physical defects that often cause death before birth or during infancy.
• Complex 5 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (ATP synthetase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as Leber's myopathy, Leigh syndrome, cardiomyopathy and NARP (neuropathy, ataxia, retinitis pigmentosa).
• Conductive deafness - malformed external ear: A rare disorder characterized by hearing loss and external ear malformations.
• Conductive hearing loss: Hearing loss due to a defect in the external auditory canal or middle ear.
• Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
• Congenital Toxoplasmosis: Fetal infection with toxoplasmosis.
• Congenital brain dysgenesis due to glutamine synthetase deficiency: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in severe brain malformations and infant death within weeks of birth.
• Congenital cytomegalovirus: Fetal infection with cytomegalovirus.
• Congenital disorder of glycosylation type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
• Congenital disorder of glycosylation type 1G: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IG is caused by a defect on chromosome 22q13.33 and involves the gene for a particular enzyme (dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase).
• Congenital disorder of glycosylation type 1H: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ih is caused by a defect on chromosome 11pter-p15.5 and involves the gene for a particular enzyme (dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase).
• Congenital disorder of glycosylation type 2C: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2c is caused by a defect on chromosome 11p11.2 and involves a defect in the gene for GDP-fucose transporter.
• Congenital disorder of glycosylation type 2E: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2e is caused by a defect on chromosome 16p and involves a defect in the gene for oligomeric complex-7.
• Congenital heart disease - radio ulnar synostosis - mental retardation: A very rare syndrome characterized mainly by heart disease at birth, fusion of forearm bones and mental retardation.
• Congenital tuberculosis: Fetal infection with tuberculosis
• Conn Syndrome-induced hypertension: Conn Syndrome-induced hypertension is high blood pressure associated with Conn Syndrome. It results from excessive production of a hormone called aldosterone by the adrenal glands. The high blood pressure often responds poorly to the usual medications. Death can result in severe cases.
• Connexin 26 anomaly: A genetic mutation that causes congenital deafness.
• Cormier Rustin Munnich syndrome: Deficiency of certain chemicals involved in the respiratory chain can result in various malformation depending on the chemical involved and the degree of deficiency.
• Corneal anesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
• Corneal anesthesia deafness mental retardation: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
• Corneal dystrophy and perceptive deafness: A very rare syndrome characterized by eye problems and deafness. Hearing starts to deteriorate during the 20's and 30's.
• Corneal hypesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
• Cornel syndrome: A very rare disorder observed in only a few families. The condition is characterized by deafness, heart problems and droopy eyelids
• Cornelia de Lange Syndrome: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. The severity of symptoms is variable.
• Cornelia de Lange syndrome 1: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable.
• Coronavirus-related Cold: A Coronavirus-related cold is a relatively minor contagious infection of the nose and throat caused by the Coronavirus. Although colds can cause discomfort they are not considered a serious condition. Coronaviruses are a significant cause of common colds in adults.
• Corpus callosum agenesis - blepharophimosis - Robin sequence: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
• Corpus callosum, agenesis of, blepharophimosis Robin type: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
• Cortical hyperostosis-syndactyly: A rare genetic disorder characterized by webbed fingers and thickening and overgrowth of bones.
• Corticosteroid-induced hypertension: Corticosteroid-induced hypertension is high blood pressure caused by use of corticosteroids. Patients with an existing history of hypertension may suffer further blood pressure increases while taking corticosteroids. Severity of symptoms varies amongst patients depending on their susceptibility, underlying health and duration of corticosteroid therapy.
• Costello syndrome: A rare genetic disorder characterized by papillomas which may become malignant.
• Coxoauricular syndrome: A very rare syndrome characterized by skeletal and ear abnormalities, short stature and deafness.
• Coxsackievirus-related Cold: A Coxsackievirus-related cold is a relatively minor contagious infection of the nose and throat caused by the Coxsackievirus. Although colds can cause discomfort they are not considered a serious condition.
• Cradle Cap: Common scalp condition in babies
• Crandall syndrome: A very rare syndrome characterized by twisted hair, hearing loss and sex hormone deficiency.
• Cranio-facio-cardio-skeletal dysplasia: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and facial and skeletal abnormalities.
• Craniodiaphyseal dysplasia: A very rare bone disorder where excess calcium is deposited mainly in the skull bones which can result in compression of various nerves in the skull and even the brain.
• Craniofacial dysostosis - arthrogryposis - progeroid appearence: A very rare syndrome characterized usually caused by fetal exposure to the cytomegalovirus and resulting in features such as short stature, mental retardation, joint movement problems and facial anomalies.
• Craniofacial dysostosis type 1: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include poor vision, hypoplasia of maxilla an impaired hearing.
• Craniometaphyseal dysplasia, autosomal recessive type: A rare genetic disorder characterized by head and facial abnormalities as well as mild limb abnormalities. It is a milder form of the disease than the autosomal dominant type.
• Craniostenosis with congenital heart disease mental retardation: A very rare disorder characterized mainly by premature fusion of the sagittal skull bones, mental retardation and heart disease that is present at birth. The disorder generally involves other variable features.
• Craniosynostosis - alopecia - brain defect: A very rare syndrome characterized mainly by a malformed skull, lack of hair and a brain defect.
• Craniosynostosis - congenital heart disease - mental retardation: A rare syndrome characterized mainly by heart and skull abnormalities as well as mental retardation.
• Craniosynostosis Maroteaux Fonfria type: A rare disorder which is similar to a condition called Apert syndrome but also involves extra fingers and toes. Apert syndrome is characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally
• Craniosynostosis radial aplasia syndrome: A rare genetic disorder characterized by premature closing of skull bones, growth deficiency and anal, limb and urogenital craniofacial abnormalities.
• Cushing's symphalangism: A rare syndrome characterized by deafness and the fusion of joints in the middle of fingers and toes as well as fusion of hand and foot bones.
• Cushing's syndrome-induced hypertension: Cushing's syndrome-induced hypertension is high blood pressure caused by a condition caused Cushing's syndrome where the adrenal glands produce excessive amounts of cortisol.
• Cutis laxa - osteoporosis: A very rare disorder characterized mainly by loose skin and osteoporosis. The bones are so weak they fracture easily during infancy and can result in bone deformity.
• Cyclophosphamide - Teratogenic Agent: There is evidence to indicate that exposure to Cyclophosphamide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cyclosporine-induced hypertension: Cyclosporine-induced hypertension is high blood pressure caused by taking cyclosporine. Patients with an existing history of hypertension may suffer further blood pressure increases while taking amphetamines and this can be serious. Severity of symptoms varies amongst patients depending on their susceptibility, underlying health and duration of cyclosporine use.
• Cytomegalovirus - Teratogenic Agent: There is strong evidence to indicate that the development of Cytomegalovirus during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
• DIDMOAD Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
• DOC 12 (Neutral Lipid Storage Type): A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
• Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy: A very rare syndrome characterized mainly by mental retardation, large head, short fingers, nearsightedness and brain abnormalities (Dandy-Walker type).
• Darvocet overdose: Darvocet is a prescription drug mainly used to treat pain. Excessive doses of the drug can result in various symptoms and even death in severe cases.
• Dauwerse-Peters syndrome: A rare disorder characterized by short stature, unusual facial appearance, very short fingers and short toes as well as other skeletal anomalies.
• Davenport-Donlan syndrome: A very rare syndrome characterized mainly by deafness, white hair, contractures and papillomas.
• Davis-Lafer syndrome: A very rare syndrome characterized mainly by mental retardation and unusual facial features.
• De Barsy Syndrome: A rare inherited disorder characterized by loose, inelastic skin, involuntary limb movements, cloudy corneas and other abnormalities.
• De Grouchy Syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• De Lange 1: A rare disorder involving a variety of congenital abnormalities including retarded growth, behavioral problems, characteristic facial features and upper limb abnormalities.
• De Sanctis-Cacchione syndrome: A rare genetic ectodermal disorder characterized by sunlight sensitivity, skin atrophy and pigmentation and skin tumors as well asneurologic involvement.
• Deafness: Partial or complete hearing loss
• Deafness - Opticoacoustic nerve atrophy - dementia: A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system. Death usually results by about the age of 40 with extensive calcification of all parts of the nervous system.
• Deafness - cataracts - skeletal anomalies: A rare disorder characterized by deafness, cataracts and skeletal abnormalities as well as other anomalies.
• Deafness - epiphyseal dysplasia - short stature: A very rare syndrome characterized by short stature (due to abnormal development of ends of thigh bones), deafness, blocked tear ducts and thing bone abnormalities.
• Deafness - goiter - stippled epiphyses: A congenital metabolic disorder where the body fails to respond to thyroid hormone even though there is sufficient quantities of the hormone.
• Deafness - hypospadias - metacarpal and metatarsal synostosis: A very rare syndrome characterized mainly by deafness, penis abnormalities and bone anomalies in the foot and hands.
• Deafness - lymphoedema - leukemia: A rare syndrome characterized by deafness, early-onset leukemia and lymphoedema in the lower legs.
• Deafness - nephritis - anorectal malformation: A very rare syndrome characterized by kidney disease, deafness and malformations of the anus and rectum.
• Deafness - onychodystrophy - osteodystrophy - mental retardation: A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).
• Deafness - pili torti -hypogonadism: An inherited condition characterized by twisted hairs, hypogonadism and nerve deafness.
• Deafness - skeletal dysplasia - lip granuloma: A very rare syndrome characterized mainly by deafness, skeletal abnormalities, mental retardation and full lips.
• Deafness hyperuricemia neurologic ataxia: A rare inherited disorder characterized by a high level of uric acid in the blood, renal insufficiency, ataxia and deafness.
• Deafness hypogonadism syndrome: A rare condition characterized by the combination of hypogonadism and deafness.
• Deafness mesenteric diverticula of small bowel neuropathy: A rare genetic condition characterized by deafness, gastrointestinal abnormalities and neuropathy.
• Deafness mixed with perilymphatic Gusher, X-linked: An inherited inner ear defect (stapes fixation) which causes progressive hearing loss. Perilymphatic gusher is a complication that can be associated with surgery to correct the inner ear defect. The severity and rate of progression of the hearing loss is variable. The hearing loss may be mixed or sensorineural.
• Deafness neurosensory - pituitary dwarfism: A very rare syndrome characterized by deafness and deficient sex hormone and pituitary hormone activity.
• Deafness onychodystrophy dominant form: A rare dominantly inherited disorder characterized by deafness from birth, deformed nails and
• Deafness peripheral - neuropathy - arterial disease: A very rare syndrome characterized mainly by artery disease, deafness and peripheral neuropathy.
• Deafness progressive cataract autosomal dominant: A rare dominantly inherited disorder characterized by deafness and progressive cataracts. The deafness is caused by degeneration of a part of the inner ear . The hearing loss can start in the 3rd decade of life and cataracts occur before the 5th decade.
• Deafness, Conductive with Stapes Fixation: An inherited inner ear defect (stapes fixation) which causes progressive hearing loss. A perilymphatic gusher can occur as a complication of surgery to correct the inner ear defect. The severity and rate of progression of the hearing loss is variable.
• Deafness, X-Linked 1: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. The defective gene (DFN2) occurs on chromosome Xq22.
• Deafness, X-Linked 2: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. Surgery to correct the underlying inner ear defect can lead to the development of a perilymphatic gusher which can further impair hearing. Type 2 is linked to a defect on chromosome Xq21.1.
• Deafness, X-Linked 2, Sensorineural Congenital: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. The defective gene (DFN2) occurs on chromosome Xq22.
• Deafness, X-Linked 3: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. Surgery to correct the underlying inner ear defect can lead to the development of a perilymphatic gusher which can further impair hearing. Type 3 is linked to a defect on chromosome Xp21.2.
• Deafness, X-linked 5: A form of hearing loss inherited in a X-linked recessive manner.
• Deafness, X-linked, DFN: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers.
• Deafness, Y-linked 1: Hearing impairment inherited in a Y-linked manner - male-to-male transmission. There are no other abnormalities associated. The condition was observed in a number of generations of a Chinese family.
• Deafness, autosomal dominant nonsyndromic sensorineural 1: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 1 involves a defect of the Drosophila diaphanous gene on chromosome 5q31.
• Deafness, autosomal dominant nonsyndromic sensorineural 10: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 10 involves a defect on chromosome 6q23.
• Deafness, autosomal dominant nonsyndromic sensorineural 11: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 11 involves a defect of myosin VIIA gene on chromosome 11q13.5.
• Deafness, autosomal dominant nonsyndromic sensorineural 12: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 12 involves a defect of alpha-tectorin gene on chromosome 11q22-q24.
• Deafness, autosomal dominant nonsyndromic sensorineural 13: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 13 involves a defect of COL11A2 gene on chromosome 6p21.3.
• Deafness, autosomal dominant nonsyndromic sensorineural 15: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 15 involves a defect of POU4F3 gene on chromosome 5q31.
• Deafness, autosomal dominant nonsyndromic sensorineural 17: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 17 involves a defect in the MYH9 gene on chromosome 22q11.2.
• Deafness, autosomal dominant nonsyndromic sensorineural 18: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 18 involves a defect on chromosome 3q22.
• Deafness, autosomal dominant nonsyndromic sensorineural 2: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 2 involves a defect on chromosome 1p34,1p35.1.
• Deafness, autosomal dominant nonsyndromic sensorineural 21: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 21 involves a defect on chromosome 6p21.3.
• Deafness, autosomal dominant nonsyndromic sensorineural 22: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 22 involves a defect in the myosin VI gene on chromosome 6q13.
• Deafness, autosomal dominant nonsyndromic sensorineural 23: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition.
• Deafness, autosomal dominant nonsyndromic sensorineural 25: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 25 involves a defect on chromosome 12q21-q24.
• Deafness, autosomal dominant nonsyndromic sensorineural 28: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 28 involves a defect of TFCP2L3 gene on chromosome 8q22.
• Deafness, autosomal dominant nonsyndromic sensorineural 3: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 3 involves a defect in the connexin-26 gene on chromosome 13q11-q12.
• Deafness, autosomal dominant nonsyndromic sensorineural 30: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 30 involves a defect on chromosome 15q25-q26.
• Deafness, autosomal dominant nonsyndromic sensorineural 31: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 31 involves a defect on chromosome 6p21.3.
• Deafness, autosomal dominant nonsyndromic sensorineural 36: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 36 involves a defect of transmembrane cochlear-expressed gene 1 on chromosome 9q13-q21.
• Deafness, autosomal dominant nonsyndromic sensorineural 4: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 4 involves a defect on chromosome 19q13.33.
• Deafness, autosomal dominant nonsyndromic sensorineural 41: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 41 involves a defect on chromosome 12q24.32-qter.
• Deafness, autosomal dominant nonsyndromic sensorineural 43: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 43 involves a defect on chromosome 2p12.
• Deafness, autosomal dominant nonsyndromic sensorineural 44: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 44 involves a defect of CCDC50 gene on chromosome 3q28.
• Deafness, autosomal dominant nonsyndromic sensorineural 47: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 47 involves a defect on chromosome 9p22-p21.
• Deafness, autosomal dominant nonsyndromic sensorineural 48: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 48 involves a defect on chromosome 12q13-q15. The hearing impairment was usually moderate to severe but rarely profound.
• Deafness, autosomal dominant nonsyndromic sensorineural 49: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 49 involves a defect on chromosome 1q21-q23.
• Deafness, autosomal dominant nonsyndromic sensorineural 5: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 5 involves a defect on chromosome 7p15.
• Deafness, autosomal dominant nonsyndromic sensorineural 53: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 53 involves a defect on chromosome 14q11.2-q12.
• Deafness, autosomal dominant nonsyndromic sensorineural 6: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 6 involves a defect on chromosome 4p16.1.
• Deafness, autosomal dominant nonsyndromic sensorineural 7: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 7 involves a defect on chromosome 1q21-q23.
• Deafness, autosomal dominant nonsyndromic sensorineural 8: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 8 involves a defect of alpha-tectorin gene on chromosome 11q22-q24.
• Deafness, autosomal dominant nonsyndromic sensorineural 9: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 11 involves a defect of the cochlin gene on chromosome 14q12-q13.
• Deafness, autosomal recessive 1: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 1 involves a defect on chromosome 13q11-q12.
• Deafness, autosomal recessive 10: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 10 involves a defect of the TMPRSS3 gene on chromosome 21q22.3.
• Deafness, autosomal recessive 12: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 12 involves a defect of the cadherin-23 gene on chromosome 10q21-q22, 3p26-p25.
• Deafness, autosomal recessive 13: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 13 involves a defect on chromosome 7q34-q36.
• Deafness, autosomal recessive 14: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 14 involves a defect on chromosome 7q31.
• Deafness, autosomal recessive 15: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 15 involves a defect on chromosome 3q.
• Deafness, autosomal recessive 16: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 16 involves a defect on chromosome 15q15.
• Deafness, autosomal recessive 17: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 17 involves a defect on chromosome 7q31.
• Deafness, autosomal recessive 18: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 18 involves a defect of the harmonin gene on chromosome 11p15.1.
• Deafness, autosomal recessive 2: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 2 involves a defect on chromosome 11q13.5.
• Deafness, autosomal recessive 20: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 20 involves a defect on chromosome 11q25-qter.
• Deafness, autosomal recessive 21: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 21 involves a defect on the alpha-tectorin gene on chromosome 11q22-q24.
• Deafness, autosomal recessive 22: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 22 involves a defect of the otoancorin gene on chromosome 16p12.2.
• Deafness, autosomal recessive 23: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 23 involves a defect on chromosome 10q21-q22.
• Deafness, autosomal recessive 24: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 24 involves a defect of the radixin gene.
• Deafness, autosomal recessive 26: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 26 involves a defect on chromosome 4q31.
• Deafness, autosomal recessive 27: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 27 involves a defect on chromosome 2q23-q31.
• Deafness, autosomal recessive 28: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 28 involves a defect of the TRIOBP gene on chromosome 22q13.1.
• Deafness, autosomal recessive 29: Recessively inherited hearing loss involving a defect on chromosome 21q22.3.
• Deafness, autosomal recessive 3: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 3 involves a defect of the unconventional myosin XVA gene on chromosome 17p11.2.
• Deafness, autosomal recessive 30: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 30 involves a defect of the myosin IIIA gene on chromosome 10p11.1.
• Deafness, autosomal recessive 31: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 31 involves a defect on chromosome 9q32-q34.
• Deafness, autosomal recessive 32: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 32 involves a defect on chromosome 1p13.3-22.1.
• Deafness, autosomal recessive 33: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 33 involves a defect on chromosome 9q34.3.
• Deafness, autosomal recessive 35: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 35 involves a defect on chromosome 14q24.1-14q24.3.
• Deafness, autosomal recessive 36: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 36 involves a defect of the espin gene on chromosome 1p36.3-p36.1.
• Deafness, autosomal recessive 37: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 37 involves a defect of the myosin VI gene on chromosome 6q13.
• Deafness, autosomal recessive 38: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 38 involves a defect on chromosome 6q26-q27.
• Deafness, autosomal recessive 39: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 39 involves a defect on chromosome 7q11.22-q21.12.
• Deafness, autosomal recessive 40: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 40 involves a defect on chromosome 22q11.21-q12.1.
• Deafness, autosomal recessive 42: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 42 involves a defect on chromosome 3q13.31-q22.3.
• Deafness, autosomal recessive 44: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 44 involves a defect on chromosome 7p14.1-p11.22.
• Deafness, autosomal recessive 46: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 46 involves a defect on chromosome 18p11.32-p11.31.
• Deafness, autosomal recessive 47: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 47 involves a defect on chromosome 2p25.1-p24.3.
• Deafness, autosomal recessive 48: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 48 involves a defect on chromosome 15q23-q25.1.
• Deafness, autosomal recessive 49: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 49 involves a defect of the tricellulin gene on chromosome 5q13.1.
• Deafness, autosomal recessive 5: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 5 involves a defect on chromosome 14q12.
• Deafness, autosomal recessive 53: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 55 involves a defect on chromosome 4q12-q13.2.
• Deafness, autosomal recessive 59: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 59 involves a defect of the pejvakin gene on chromosome 2q31.1-q31.3.
• Deafness, autosomal recessive 6: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 6 involves a defect of the transmembrane inner ear-expressed gene on chromosome 3p21.
• Deafness, autosomal recessive 62: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 62 involves a defect on chromosome 12p13.2-p11.23.
• Deafness, autosomal recessive 65: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 65 involves a defect on chromosome 20q13.2-q13.3.
• Deafness, autosomal recessive 66: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 66 involves a defect on chromosome 6p22.3-p21.2.
• Deafness, autosomal recessive 67: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 67 involves a defect on chromosome 16p11.2.
• Deafness, autosomal recessive 68: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 68 involves a defect on chromosome 19p13.2.
• Deafness, autosomal recessive 7: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 7 involves a defect of the transmembrane chochlear-expressed gene 1 on chromosome 9q13-q21.
• Deafness, autosomal recessive 72: Recessively inherited hearing loss involving a defect on chromosome 19p13.3.
• Deafness, autosomal recessive 8: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 8 involves a defect of the TMPRSS3 gene on chromosome 21q22.3.
• Deafness, autosomal recessive 9: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 9 involves a defect of the otoferlin gene on chromosome 2p23-p22.
• Deafness, congenital neurosensory, autosomal recessive 10: Recessively inherited hearing loss involving a defect on chromosome 21p22.3.
• Deafness, congenital onychodystrophy, recessive form: A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).
• Deafness, genetic, nonsyndromic: An inherited form of deafness that is not associated with any other abnormalities. The degree of hearing loss can vary depending on the origin of the genetic defect.
• Deafness, isolated, due to mitochondrial transmission: Inherited hearing loss that occurs without any other symptoms and is caused by minute changes in mitochondrial DNA.
• Deafness, neurosensory nonsyndromic recessive, DFN: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The degree of deafness is usually severe and onset is variable but is generally well within the first decade.
• Deafness, vitiligo, achalasia: A rare disorder characterized by deafness, achalasia (difficulty swallowing) and patches of reduced pigmentation in the skin (vitiligo).
• Deafness-mental retardation, Martin-Probst type: A rare disorder characterized mainly by deafness and mental retardation.
• Deafness-tubular acidosis-anaemia: A rare disorder characterized mainly by abnormal progressive calcification of the spinal cord and brain, kidney anomaly, anemia and deafness.
• Del (1) (pter-p36.3) mosaicism: A very rare chromosomal disorder where the end portion of the short arm of chromosome one is missing in some body cells. The type and severity of symptoms is variable.
• Del(1) (23-q25): A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing.
• Del(1) (p22.3-p13.3): A very rare chromosomal disorder where a portion of the short arm (p22.3-p13.3) of chromosome one is missing. The type and severity of symptoms is variable.
• Del(1) (pter-p36.2): A very rare chromosomal disorder where the end portion of the short arm of chromosome one is missing. The type and severity of symptoms is variable.
• Del(1) (q42-qter): A very rare chromosomal disorder where a portion of the long arm (q42-qter) of chromosome one is missing. The type and severity of symptoms is variable.
• Deletion 10q: A rare disorder caused by the deletion of a portion of chromosome 10q. The range and severity of symptoms is determined by the size of the portion that is deleted.
• Deletion 11q: A very rare genetic disorder characterized by the deletion of genetic material from the long arm (q) of chromosome 11 - the genetic material occurs only once in body cells instead of the normal two. The type and severity of symptoms may vary considerably depending on the exact location and size of the deleted genetic material.
• Deletion 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Deletion 18q: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Deletion 22q11: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
• Deletion 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Deletion 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
• Deletion 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and extra digits.
• Deletion 5p: A rare chromosomal disorder involving deletion of the genetic material from the short arm (p) of chromosome 5 which results in various abnormalities. The resulting condition is often called Cri-du-Chat Syndrome and features may vary somewhat depending on the size and location of the portion of duplicated genetic material.
• Deletion 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Deletion 6q16 q21: A rare chromosomal disorder characterized primarily by facial anomalies, mental retardation and a short head.
• Deletion 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Dementia, familial Danish: A rare inherited form of dementia caused by the deposit of abnormal substances in the brain, spinal cord and retina and the degeneration of brain tissue. Deafness and cataracts usually started in the 20's with severe deafness occurring by the age of 45. Movement problems usually started after the age of 40 with death occurring in the 5th or 6th decade.
• Demyelinating disorder: Any condition that is characterised by the destruction of the myelin sheaths of the nerves
• Dentinogenesis imperfecta - short stature - hearing loss - mental retardation: A rare syndrome characterized by teeth anomalies (dentinogenesis imperfecta), short stature, hearing loss and mental retardation.
• Dermatoleukodystrophy: A very rare progressive brain disease associated with thick wrinkled skin. Only two reported cases with both dying within three years of birth.
• Desmosterolosis: A rare condition characterized by abnormal cholesterol biosynthesis where one of the intermediate products of cholesterol synthesis (desmosterol) is deposited in the body (plasma and other tissues). The condition also involves variable congenital anomalies which can be lethal in some cases.
• Dextrocardia-bronchiectasis-sinusitis: A genetic disorder characterized by sinusitis, bronchiectasis and situs inversus.
• DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
• DiGeorge's syndrome: Rare form of primary immune deficiency
• Diabetes insipidus: A condition which is characterized by polyuria causing dehydration and resulting in great thirst
• Diabetes insipidus primary central: A rare dominantly inherited form of diabetes insipidus. It is caused by the progressive degeneration of a part of the hypothalamus which reduces the production of a hormone called arginine vasopressin.
• Diabetes insipidus, diabetes mellitus, optic atrophy: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
• Diabetes insipidus, diabetes mellitus, optic atrophy, deafness, mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
• Diabetes mellitus, permanent neonatal - pancreatic and cerebellar agenesis: A rare syndrome characterized by the abnormal development of the cerebellum and pancreas which results in diabetes mellitus.
• Diaphanospondylodysostosis: A rare disorder characterized by bone formation anomalies including a lack of bone formation in the spine during the fetal stage as well as kidney problems.
• Diarrhea chronic with villous atrophy: A very rare metabolic disorder which causes abnormalities in the intestinal lining which results in chronic diarrhea. The reported patients died at 12 years of age and suffered a variety of other problems.
• Diffuse leiomyomatosis with Alport syndrome: A very rare syndrome characterized mainly by multiple tumors (in the esophagus, female genitals, trachea and bronchus) and Alport syndrome which involves progressive kidney dysfunction.
• Diflucan - Teratogenic Agent: There is evidence to indicate that exposure to Diflucan (an antifungal drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Digitorenocerebral syndrome: A very rare syndrome characterized by numerous abnormalities involving the brain, kidneys, fingers, toes, nails and face as well as mental retardation and vision impairment.
• Diphallus - rachischisis - imperforate anus: A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae.
• Discoid lupus erythematosus: Form of lupus affecting the skin.
• Disorder of Cornification 12 (Neutral Lipid Storage Type): A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
• Distinctive Craniofacial Features - Pterygia - Mental Retardation: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
• Drug-induced hypertension: Drug-induced hypertension is high blood pressure caused by taking certain drugs or medications e.g. corticosteroids, cyclosporine, amphetamines, alcohol and estrogens.
• Drug-resistant Streptococcus Pneumoniae Disease: Streptococcal respiratory infection resistant to antibiotics
• Duane-radial ray syndrome: A very rare inherited disorder characterized by impaired control of eye movement and bone abnormalities in the hands and feet.
• Dup (5)(q22-q23): A rare chromosomal disorder involving duplication of a certain section (q22-q23) of the long arm of chromosome 5 which results in various abnormalities.
• Dup(1) (q25-q32): A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is duplicated. The type and severity of symptoms may vary.
• Duplication 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Duplication 18: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
• Duplication 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Duplication 5q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 6p: A very rare chromosomal disorder where a part of the short arm (p) of chromosome 6 is duplicated resulting in various abnormalities depending on the location and length of missing genetic material.
• Duplication 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Duplication 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Duplication 9p partial: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Dwarfism - deafness - retinitis pigmentosa: A very rare disorder characterized by deafness, dwarfism and an eye disorder.
• Dysbarism: A reaction caused by exposure to a sudden change in environmental pressure.
• Dysgnathia complex: A very rare disorder characterized by a small or absent jaw, ear abnormalities and a small mouth and tongue. The severity and range of symptoms is variable.
• Dysmorphism - abnormal vocalization - mental retardation: A very rare syndrome characterized mainly by mental retardation, facial abnormalities and an abnormal voice.
• EEC syndrome: A rare genetic disorder characterized by absence of fingers and toes, ectodermal dysplasia and cleft lip or cleft palate.
• Ear blueness: A blue discolouration on the ear
• Ear bruise: A haematoma that occurs on the ear.
• Ear burning sensation: A burning sensation located on the ear
• Ear canal irritation:
• Ear coldness: A cold sensation occurring on the ear
• Ear conditions: Any condition that affects the ear
• Ear damage: A condition which is characterized by damage to ones ear possibly resulting in hearing loss
• Ear discharge: Discharge of fluid from the ear
• Ear foreign body: Having a "foreign body" stuck inside the ear
• Ear fullness: Feeling of fullness of the ear
• Ear infection: Any infection of the ear (called otitis)
• Ear infection (infant): An infection that affects the ear
• Ear itching: Itching or itchy ear symptoms
• Ear lump: A palpable lesion located anatomically on the chin
• Ear numbness: A loss of sensation located on the ear
• Ear paresthesia/ tingling: A loss of sensation located on or in the ear
• Ear rash: An eruption on the skin of the ear.
• Ear redness: Redness or rash of the ear
• Ear shapes: Differences in the shape of the ears
• Ear sounds: Hearing ringing, buzzing, or noises in the ears
• Ear swelling: A swelling located on the ear
• Ear wax: Buildup of wax (cerumen) inside the ear canal
• Earache: Pain in the ear called "otalgia"
• Earlobe conditions: Conditions that affect the earlobe
• Earlobe symptoms: Symptoms affecting the earlobe
• Eccentrochondrodysplasia: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down.
• Echovirus-related Cold: An Echovirus-related cold is a relatively minor contagious infection of the nose and throat caused by the Echovirus. Although colds can cause discomfort they are not considered a serious condition.
• Ectodermal dysplasia: A group of rare inherited conditions which affect the ectodermal skin layer which includes the skin, hair, teeth and nails.
• Ectodermal dysplasia - mental retardation - CNS malformation: A rare syndrome characterized mainly by mental retardation, central nervous system disorders and skin, hair and nail abnormalities.
• Ectodermal dysplasia - mental retardation - central nervous system malformation: A rare syndrome characterized by severe mental retardation, hypothyroidism, abnormal brain development and hair, teeth and nail abnormalities.
• Ectodermal dysplasia - neurosensory deafness: A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis.
• Ectodermal dysplasia, hypohidrotic, autosomal dominant: A very rare inherited disorder that affects the development of skin, hair, nails, teeth and sweat glands during the fetal stage.
• Ectodermal dysplasia, hypohidrotic, autosomal recessive: A rare genetic multisystem disorder characterized by hair, teeth, nail and skin abnormalities and absence of certain sweat glands.
• Ectrodactyly - Ectodermal Dysplasia - Cleft Lip/Palate Syndrome, Type 1: EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ in the origin of the genetic defect. Type 1 is caused by a defect on chromosome 7q11. The severity and type of symptoms and deformities is highly variable.
• Ectrodactyly - Ectodermal Dysplasia - Cleft Lip/Palate Syndrome, Type 3: EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ in the origin of the genetic defect. Type 3 is caused by a defect on chromosome 3q27. The severity and type of symptoms and deformities is highly variable.
• Edinburgh malformation syndrome: A rare syndrome characterized mental and physical retardation, infant death and various other abnormalities.
• Edward Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
• Edwards Syndrome: A rare inherited genetic disorder where a portion of chromosome 18 is duplicated. Most affected individuals die during the fetal stage and surviving infants have serious defects and tend to live for only a short while.
• Edwards-Patton-Dilly syndrome: A rare syndrome characterized mainly by deafness, kidney disease and increased parathyroid activity.
• Ehlers-Danlos syndrome, Beasley Cohen type: A rare condition where mental retardation, deafness and cataracts are associated with a connective tissue disorder called Ehlers-Danlos syndrome.
• Elliott-Ludman-Teebi syndrome: A rare syndrome characterized by excessive skin folds on the limbs and back, psychomotore retardation, hernia and various other abnormalities.
• Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
• Enalapril - Teratogenic Agent: There is evidence to indicate that exposure to Enalapril (an ACE inhibitor) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Enchondromatosis-dwarfism-deafness: A rare syndrome characterized mainly by short limbs, short stature, asymmetrical limbs, deafness and abnormal bone development.
• Endolymphatic sac tumors (ELST's) in Von Hippel Lindau (VHL) disease: A tumor that develops in the endolymph sacs which are structures inside the ear. These tumors occur predominantly in patients suffering from Von Hippel Landau disease. The tumors don't metastasize.
• Endomyocardial fibroelastosis: A rare heart malformation involving an abnormal thickening of the part of the heart muscle called the endocardium which affects the heart's function. Death is common in infancy and during early childhood.
• Engelhard-Yatziv syndrome: A rare syndrome characterized mainly by droopy eyelids, small head and finger and toe abnormalities.
• Enterovirus-related Cold: Enterovirus-related cold is a relatively minor contagious infection of the nose and throat caused by the Enterovirus. Although colds can cause discomfort they are not considered a serious condition.
• Epilepsy: Paroxysmal transient disturbances of brain function that may manifest as loss of consciousness, abnormal motor phenomena
• Epilepsy, partial, familial: A form of epilepsy that tends to run in families and is linked to damage or abnormalities in a specific part of the brain. Often sensory disturbances accompany or precede the seizures.
• Epiphyseal dysplasia - hearing loss - dysmorphism: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
• Epiphyseal dysplasia dysmorphism camptodactyly: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
• Episodic ataxia, type 3: A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as tinnitus and vertigo. Stress and exertion may trigger the episodes. Type 3 is caused by a defect on chromosome 1q42.
• Episodic ataxia, type 7: A rare genetic disorder characterized by episodes of incoordination and unsteadiness which lasted from hours to days. Episodes occurred from monthly to yearly and the frequency tends to lessen with age. Stress and exertion may trigger the episodes. Type 7 is caused by a defect on chromosome 19q13.
• Epstein (C.J.) syndrome: A rare condition characterized by deafness, kidney inflammation, a reduced number of normal blood platelets needed for clotting and the presence of large blood platelets.
• Epstein's Syndrome: A syndrome characterized by the association of kidney disease, deafness and a blood disorder.
• Ermine phenotype: A very rare syndrome characterized by pigmentation abnormalities as well as deafness.
• Erythropoietin-induced hypertension: Erythropoietin-induced hypertension is high blood pressure caused by taking erythropoietin which is sometimes used to treat anemia in conditions such as chornic kidney failure. Patients with an existing history of hypertension may suffer further blood pressure increases while taking amphetamines and this can be serious. Severity of symptoms varies amongst patients depending on their susceptibility, underlying health and duration of erythropoietin use.
• Etretinate - Teratogenic Agent: There is evidence to indicate that exposure to Etretinate (a drug used to treat psoriasis) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Eustachian tube disorders: Any disorder that affects the Eustachian tubes of the ear
• Eye defects - arachnodactyly - cardiopathy: A rare syndrome characterized mainly by eye defects, long, thin fingers and heart disease.
• FG syndrome 1: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 1, the genetic defect is located on chromosome Xq12-q21.31.
• FG syndrome 2: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 2, the genetic defect is located on chromosome Xq28.
• FG syndrome 3: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 3, the genetic defect is located on chromosome Xp22.3.
• FG syndrome 4: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 4, the genetic defect is located on chromosome Xp11.4-p11.3.
• FG syndrome 5: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 5, the genetic defect is located on chromosome Xq22.3.
• Fabry's Disease: An inherited metabolic disorder where phospholipids are deposited mostly in the blood vessels as well as other tissues and organs. Symptoms include skin lesions, small red spots on the abdomen, thighs and scrotum, fever, peripheral edema, hypertension and renal failure. Also called angiokeratoma corporis diffusion, Anderson's syndrome, Anderson-Fabry disease, Morbus Anderson-Fabry, Ruiter-Pompen syndrome or Sweeley-Klionsky disease.
• Face fracture: A fracture of the bones of the face
• Face symptoms: Symptoms affecting the face
• Facial dysmorphism - intellectual deficit - short stature - hearing loss: A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features.
• Facial dysmorphism - shawl scrotum - joint laxity syndrome: A very rare syndrome characterized mainly by loose joints, facial anomalies and a shawl scrotum.
• Facio-auriculo-radial dysplasia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
• Facioplegic migraine: Unilateral facial weakness occurring during a migraine.
• Facioscapulohumeral muscular dystrophy 1a: An inherited muscle disease involving slowly progressive muscle weakness. The condition is characterized by the early involvement of facial and shoulder muscles. Muscle weakness then spreads to the pelvis and legs. The onset, severity and rate of progression is variable.
• Facioskeletalgenital syndrome, Rippberger type: A rare syndrome characterized by facial, skeletal and genital abnormalities.
• Familial Granulomatosis, Blau type: A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions.
• Familial Treacher Collins syndrome: Treacher Collins syndrome is a rare inherited disorder characterized by down-slanting eye slits, malformed external ear, abnormal lower eyelid and underdeveloped cheeks. In the familial form, the condition tends to occur in a number of people within a family. The severity of the condition is variable.
• Familial deafness: Deafness that tends to run in families (familial) and has genetic origins.
• Familial hypertension: An inherited from of high blood pressure that tends to run in families.
• Familial isolated deficiency of vitamin E: A rare neurodegenerative disorder caused by an inherited condition where the body is unable to absorb vitamin E from the food consumed.
• Familial, Systemic, Juvenile Granulomatosis: A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions.
• Fanconi syndrome: Fanconi syndrome that occurs secondary to the accumulation of crystals of light-chain immunoglobulin molecules in the kidney tubules which affects their functioning.
• Fara-Chlupackova syndrome: A rare syndrome characterized mainly by ear, face and neck abnormalities.
• Fechtner syndrome: A rare condition characterized by the presence of large blood platelets, kidney inflammation, deafness and abnormal leukocytes.
• Feigenbaum-Bergeron-Richardson syndrome: A rare syndrome characterized mainly by deafness, diabetes, epilepsy, kidney disease and premature hardening of the arteries.
• Femoral facial syndrome: A rare genetic disorder characterized by underdeveloped femur, short nose and cleft palate.
• Fetal alcohol syndrome: A condition which occurs in a new born fetus and is caused by the mother consuming excess alcohol during her pregnancy
• Fetal aminopterin syndrome: A rare disorder which produces multiple abnormalities and results from a failed abortion attempt using the drugs aminopterin and methotrexate.
• Fetal methylmercury syndrome: Fetal exposure to methyl mercury which can pass from the mother to the fetus through the placenta.
• Fetal ricin syndrome: A condition that occurs in infants born to mothers who consumed castor oil seeds (Ricinus communis) as a form of contraception.
• Fetal warfarin syndrome: A rare disorder caused by fetal exposure to warfarin (anticoagulant) and resulting in physical, neurological and mental abnormalities.
• Fibrochondrogenesis: A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death.
• Fibrosing Mediastinitis idiopathic: A rare condition characterized by excessive growth of fibrous tissue and collagen deposits inside the chest which can compress various parts inside the chest such as the esophagus, airways and even some blood vessels.
• Fibular hypoplasia or aplasia - femoral bowing - oligodactyly: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).
• Fine-Lubinsky syndrome: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
• Fitzsimmons-Walson-Mellor syndrome: A very rare syndrome characterized mainly by spastic paraplegia, progressive kidney disease and deafness.
• Flu-like symptoms: Symptoms similar to flu including fever
• Fluconazole - Teratogenic Agent: There is evidence to indicate that exposure to Fluconazole (an antifungal drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Focal dermal hypoplasia: A rare genetic disorder characterized by bone, skin, teeth and pigmentation abnormalities as well as asymmetry of the face, trunk ant extremities.
• Food Additive Adverse reaction - chocolate: An intolerance to chocolate is an adverse reaction (not an immune response) by the body to chocolate. The adverse reaction results from the body's inability to metabolize the food. The amount of chocolate required to trigger the onset of symptoms and the nature and severity of symptoms may vary considerably between patients.
• Food Additive Adverse reaction - sulphite: An intolerance to sulphite is an adverse reaction (not an immune response) by the body to sulphite. The adverse reaction results from the body's inability to metabolize the substance. The amount of sulphite required to trigger the onset of symptoms and the nature and severity of symptoms may vary considerably between patients.
• Forney Robinson Pascoe syndrome: A rare condition characterized by skeletal abnormalities, deafness and mitral regurgitation.
• Fosinopril - Teratogenic Agent: There is evidence to indicate that exposure to Fosinopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Fountain Syndrome: A very rare inherited disorder involving mental retardation, sensorineural deafness, skeletal defects, coarse facial features and full lips.
• Fragile-X Syndrome: A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females.
• Franceschetti-Klein syndrome: A rare genetic disorder characterized by malar hypoplasia, down-slanting eye slits, defect of lower eye lid and malformation of external ear.
• Fried-Goldberg-Mundel syndrome: A rare syndrome characterized mainly by leg malformations and an abnormally positioned urethral opening (hypospadias) in males.
• Frontonasal dysplasia - Klippel Feil syndrome: A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck (Klippel Feil syndrome) as well as larynx and voice box abnormalities.
• Frontonasal dysplasia - phocomelic upper limbs: A very rare syndrome characterized mainly by short arms, facial anomalies and various other abnormalities.
• Froster-Iskenius-Waterson syndrome: A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles.
• Fuhrmann syndrome: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).
• Fuhrmann-Rieger-de Sousa syndrome: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).
• Fungal meningitis: Fungal meningitis is an infection that causes swelling and irritation of the tissue around the brain and spinal cord. It usually strikes people whose weakened immune systems can't fight off infection. The disease is not common. but it can be very serious.
• GM1 gangliosidosis: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III.
• GM2-gangliosidosis, AB variant: A very rare inherited disorder where the brain and spinal cord nerve cells (central nervous system) are progressively destroyed.
• Galactosemia III: A rare inherited disorder where deficiency of a particular enzyme (UDP-Galactose-4-epimerase) prevents the metabolism of galactose which is a sugar component of milk. The condition may vary from mild to severe.
• Galloway syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities.
• Gangliosidosis generalized GM1, type 1: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III.
• Gaucher disease - perinatal lethal form: A rare syndrome characterized by the association of abnormally tight skin and Gaucher disease which is a lipid storage disease. This is the most severe form of Gaucher disease.
• Glomus tympanicum: A rare, usually benign tumor found behind the ear drum. The tumor develops from glomus cells which are located along blood vessels involved in automatic body activities such as regulation of blood pressure and blood flow.
• Glossopalatine ankylosis - micrognathia - ear anomalies: A very rare syndrome characterized mainly by a small jaw, ear abnormalities and abnormal attachment of back of tongue (glossopalatine ankylosis).
• Glossopharyngeal neuralgia: A condition which is characterized by sever pain that originates on the side of the throat and extends to the ear
• Glue ear: A condition which affects the ear and is characterized by a chronic accumulation of the fluid leading to a loss of hearing
• Glutamine deficiency, congenital: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in infant death within weeks of birth.
• Glutaric Aciduria, neonatal form of type II A: A more serious neonatal form of glutaricaciduria where there is excessive blood and urine levels of glutaric acid and congenital anomalies may be present.
• Goldberg syndrome: A rare lysosomal storage disorder characterized by an enzyme deficiency (neuraminidase and beta-galactosidase) which results in a build-up of glycoproteins in the urine. There are three main subtypes: infantile, juvenile and adult forms. The early infantile form is the most severe and often results in death during infancy.
• Goldberg-Shprintzen megacolon syndrome: A rare malformations syndrome characterized by abnormalities such as small head, eye problems, poor muscle tone, hearing problems and Hirschsprung megacolon where defective intestinal muscles are unable to move stool efficiently through the intestines.
• Goldenhar disease: A rare disorder characterized by numerous, often asymmetric, defects involving the face, ear, mouth and vertebrae.
• Gomez and Lopez-Hernandez syndrome: A rare genetic condition characterized by various abnormalities such as mental deficiency, small head, short stature, eye problems and movement problems.
• Gonadal dysgenesis XY type associated anomalies: A very rare syndrome characterized mainly by
• Gradenigo's syndrome: A complication that can develop from a middle ear infection that spreads to the mastoid bone of the skull. The syndrome involves the association of headache, ear infection and sixth cranial nerve palsy.
• Groll-Hirschowitz syndrome: A rare genetic condition characterized by deafness, gastrointestinal abnormalities and neuropathy.
• Growth delay due to insulin-like growth factor I deficiency: A rare disorder where the deficiency of a growth factor (IGF-1) causes growth delay, deafness and mental retardation.
• Gustavson syndrome: A very rare condition characterized by features such as mental retardation, spasticity, seizures and eye and ear problems.
• HIV/AIDS: HIV is a sexually transmitted virus and AIDS is the progressive immune failure that HIV causes.
• Hagemoser Weinstein Bresnick syndrome: A very rare syndrome characterized mainly by deafness, neuropathy and vision problems.
• Hajdu-Cheney Syndrome: A rare genetic disorder characterized by early tooth loss, relaxed joints, small stature and bone abnormalities.
• Hangover: Condition following excessive alcohol consumption.
• Harper dwarfism: A rare inherited disorder involving a range of abnormalities. It is a variant of the Seckel syndrome.
• Harrod Doman Keele syndrome: A very rare syndrome characterized mainly by skull, facial, genital, finger and toe abnormalities.
• Haspeslagh Fryns Muelenaere syndrome: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Head injury: Any injury that occurs to the head
• Head symptoms: Symptoms affecting the head or brain
• Hearing disturbance:
• Hearing impairment: Impaired ability to hear.
• Hearing loss: The loss of part or all of ones ability to hear
• Hearing symptoms: Problems with the ear's hearing ability
• Hearing voices: Hearing voices as a type of hallucination
• Hemifacial microsomia macrodactyly: A rare syndrome characterized by enlargement of some fingers as well as the underdevelopment of the lower half of one side of the face.
• Hemiplegic migraine, familial: A rare inherited form of migraine that characteristically causes temporary paralysis on one side of the body.
• Herbal Agent overdose - Kava: Kava can be used as a herbal agent to treat anxiety, restlessness, stress and sleeping problems due to anxiety. The herbal agent contains chemicals including alpha-pyrone which can cause various symptoms if excessive quantities are taken.
• Hereditary Motor and Sensory Neuropathy with Deafness, Mental Retardation and Absence of Large Myelinated Fibers: An inherited condition reported in three brothers involving mental retardation, deafness and nerve and muscle problems. The hearing loss is severe and occurs in the first year of life.
• Hereditary hearing disorder: Genetic disorders that affects hearing and is passed from parents to offspring.
• Hereditary hearing loss: Hearing loss that is inherited or passed on from parents to children as a result of a genetic defect.
• Herpes zoster oticus: Facial and auditory effects of herpes zoster
• Hersh-Podruch-Weisskopk syndrome: A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness.
• High blood pressure: Excessive blood pressure.
• Hirschsprung disease - deafness - polydactyly: A very rare syndrome characterized mainly by extra fingers, deafness and an intestinal disorder called Hirschsprung disease where waste material fails to move effectively through the intestinal system resulting in constipation.
• Hirsutism: A condition which is characterized by excessive body and facial hair
• Histidinuria, renal tubular defect: A very rare syndrome where a kidney defect causes high levels of histidine in the urine.
• Holoprosencephaly - caudal dysgenesis: A very rare syndrome where the tailbone and the portion above the tailbone (coccyx and sacrum) fail to develop. The brain also fails to divide into two lobes resulting in a single-lobed brain
• Holzgreve-Wagner-Rehder syndrome: A rare genetic disorder characterized by extra fingers, cleft palate, heart abnormalities, growth retardation and various other anomalies.
• Human HOXA1 Syndromes: Human HOXA1 syndromes are very rare conditions caused by genetic defects involving the HOXA1 gene. The severity of the condition is highly variable depending on the extent of the defect and inheritance pattern. The most severe form is Bosley-Salih-Alorainy syndrome which involves a homozygous mutation. Other manifestations of the genetic defect are Athabaskan Brainstem Dysgenesis syndrome and Navajo Brainstem syndrome. The gene is involved in the development of the cardiovascular system, inner ear and the hindbrain so defects tend to involve mainly these parts of the body.
• Hunter-MacDonald syndrome: A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas.
• Hunter-Mcdonald syndrome: A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors.
• Hydranencephaly: A very rare condition where fluid replaces a portion of the brain.
• Hydrocephalus: A condition which is characterized by marked dilatation of the cerebral ventricles
• Hydrocephalus - costovertebral dysplasia - Sprengel anomaly: A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly).
• Hydrolethalus syndrome: A rare genetic disorder characterized by hydrocephalus, micrognathia and polydactyly.
• Hydrops ectrodactyly syndactyly: A very rare disorder characterized mainly be webbed fingers and toes, hand defect and hydrops (abnormal accumulation of fluid in the fetus).
• Hydroxychloroquine - Teratogenic Agent: There is evidence to indicate that exposure to Hydroxychloroquine (an antimalarial drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Hyper IgE: Inherited immunodeficiency disorders involving excessive production of IgE and frequent bacterial (staphylococcal) infections mainly involving the skin as well as other problems. Recessively inherited forms of the condition tend to be more serious with bone problems.
• Hyperaldosteronism-induced hypertension: Hyperaldosteronism -induced hypertension is high blood pressure caused by excessive production of a hormone called aldosterone by the adrenal glands. The high blood pressure often responds poorly to the usual medications. Death can result in severe cases.
• Hypertelorism - esophageal abnormalities - hypospadias: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
• Hypertelorism with esophageal abnormality and hypospadias: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
• Hypertension due to bilateral renal artery stenosis: Hypertension due to bilateral renal artery stenosis is high blood pressure resulting from narrowing kidney blood vessels which prevents the blood from flowing through the kidneys properly.
• Hypobetalipoproteinaemia - ataxia - hearing loss: A rare disorder characterized by the association of low blood betalipoprotein level, ataxia and hearing loss.
• Hypomandibular faciocranial dysostosis: A very rare syndrome characterized mainly by very underdeveloped upper and lower jaw as well as a very small, absent or small tongue.
• Hypopituitarism - micropenis - cleft lip palate: A very rare syndrome characterized mainly by low pituitary hormone level, small penis and a cleft lip and palate.
• Hypospadias - hypertelorism: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
• Hypothyroidism postaxial polydactyly mental retardation: A very rare syndrome characterized by abnormally low thyroid levels, extra digits, mental retardation and unusually facial appearance.
• I cell disease: A rare inherited biochemical disorder characterized by the harmful accumulation of chemicals (glycoproteins and glycoplipids) due to the deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase).
• IMAGe syndrome: A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities.
• Ichthyosiform Erythroderma, Corneal Involvement and Deafness Syndrome: A rare genetic ectodermal disorder characterized by keratitis, skin lesions and sensorineural deafness. The deafness and skin redness are usually present at birth and the corneas of the eye are gradually destroyed by keratitis which can result in loss of vision.
• Ichthyosiform erythroderma, corneal involvement, deafness: A very rare recessively inherited disorder characterized by deafness, eye problems and red scaly skin.
• Ichthyosis - deafness - mental retardation - skeletal anomaly: A rare disorder characterized by deafness, mental retardation, scaly skin and skeletal anomalies.
• Ichthyosis microphthalmos: A rare genetic disorder characterized by dry scaly skin and small eyes.
• Ichythosiform Erythroderma with Leukocyte Vacuolation: A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
• IgG Deficiency: A deficiency of immunoglobulin G which affects the immune system.
• Imaizumi Kuroki syndrome: A very rare syndrome characterized mainly by premature skull fusion and forearm abnormalities.
• Immotile cilia syndrome, due to defective radial spokes: A very rare disorder where the cilia fail to move adequately due to abnormal cilia structure. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Immotile cilia syndrome, due to excessively long cilia: A very rare disorder where the cilia fail to move adequately due to abnormally long cilia. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Immunoglobulin G subclass deficiency: A deficiency of one or more of the subclasses of immunoglobulin G. The overall IgG level may be normal but the subclass levels will vary (there are four subclasses). Some patients remain healthy despite having some degree of IgG deficiency.
• Impossible syndrome: A very rare syndrome (only one reported case) characterized a range of severe malformations, premature birth and stillbirth.
• Inborn amino acid metabolism disorder: A group of inherited disorders where the body is not able to metabolize amino acids consumed in the diet. Amino acids are a part of carbohydrates, fats and proteins and are metabolized in order to provide energy or to make other needed compounds. There are many steps involved in metabolism and the severity can be greatly variable depending on the exact nature of the disorder.
• Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
• Infant Cytomegalic virus: A serious CMV viral infection in newborns.
• Infantile Refsum Disease: Genetic disease affecting nerve and muscle control.
• Infantile multisystem inflammatory disease: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
• Infantile onset spinocerebellar ataxia: A rare disorder that has neurological origins and causes progressive ataxia, impaired tendon reflexes, abnormal limb movements, and sensory, eye muscle and hearing impairment.
• Inhalant abuse: Inhalant abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Inhalants include gasoline, adhesives, solvents, and aerosols. These inhalants can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
• Inhalant addiction: Inhalant addiction refers to the compulsive need to abuse inhalants (e.g. inhaling them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Inhalants are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Inhalants includes glues, shoe polish, household cleaners, room deodorizers and nail polish removers.
• Intellectual deficit - cataracts - calcified pinnae - myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Intellectual deficit - multiple anomalies: A very rare syndrome characterized mainly by mental retardation and multiple birth abnormalities such as heart defects, undescended testes, curved spine and distinctive facial appearance.
• Intracranial arachnoid cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the brain. The type and severity of symptoms is determined by the size and location of the cyst.
• Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies: A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities.
• Intrauterine infections: Infection of the fetus while still inside the womb. The type and severity of symptoms is determined by the type of infection and at what stage of pregnancy it occurs. Some cases are mild enough to be asymptomatic and others are severe enough to cause a miscarriage.
• Iridogoniodysgenesis and skeletal anomalies: A rare syndrome characterized by skeletal anomalies, congenital glaucoma and an unusual facial appearance.
• Iris dysplasia hypertelorism deafness: A very rare syndrome characterized mainly by widely spaced eyes, deafness and an abnormality of the iris of the eye.
• Iris dysplasia with ocular hypertelorism, psychomotor retardation and sensorineural deafness: A rare syndrome characterized by wide-set eyes, psychomotor retardation, deafness and an eye abnormality.
• Ischiadic hypoplasia - renal dysfunction - immunodeficiency: A rare disorder characterized by abnormal kidney function, immunodeficiency and an underdeveloped
• Isotretinoin - Teratogenic Agent: There is evidence to indicate that exposure to Isotretinoin (an acne treatment drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Isotretinoin embryopathy like syndrome: A very rare syndrome which causes the same abnormalities and deformities that occur in fetal exposure to maternal use of isotretinoin.
• Ivic Syndrome: A very rare disorder characterized by finger and hand bone abnormalities (radial ray defects), crossed eyes, deafness and other variable anomalies.
• Jacobsen syndrome: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
• Jansen type metaphyseal chondrodysplasia: A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities.
• Jaw conditions: Conditions affecting the temporomandibular joint (the jaw).
• Jaw joint disorders: Any condition involving the jaw joint.
• Jensen syndrome: A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system. Death usually results by about the age of 40 with extensive calcification of all parts of the nervous system.
• Jequier-Deonna Syndrome: A very rare condition described in two sisters. It is characterized by vision and hearing problems and incoordination.
• Jeune-Tommasi syndrome: A rare genetic disorder characterized by ataxia, deafness and heart problems.
• Job syndrome: An immunodeficiency disorder characterized by excessive production of IgE and frequent bacterial infections mainly involving the skin.
• Johanson-Blizzard Syndrome: A rare genetic disorder involving a range of abnormalities including a characteristic beak-like small nose, hypothyroidism and deafness.
• Jones syndrome: A very rare syndrome characterized mainly by progressive hearing loss and gum tumors.
• Juberg-Marsidi syndrome: A very rare inherited disorder characterized by severe mental retardation, delayed developmental milestones, muscle problems and growth retardation. The range and severity of symptoms is variable.
• Juvenile Paget disease: A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild.
• Juvenile-onset dystonia: A rare form of progressive dystonia that starts early in life - first or second decade. Dystonia is prolonged involuntary muscle spasms or contractions. Various other physical abnormalities are also present and severe hearing loss usually occurs by the middle of the first decade. In the two reported cases, death occurred early in the third decade.
• Kaler-Garrity-Stern syndrome: A very rare syndrome characterized mainly by osteopenia, mental retardation and sparse hair.
• Kaplan-Plauchu-Fitch syndrome: A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.
• Kearns-Sayre Syndrome: A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles.
• Keratitis Ichthyosis Deafness Syndrome: A rare genetic ectodermal disorder characterized by keratitis, skin lesions and sensorineural deafness. The deafness and skin redness are usually present at birth and the corneas of the eye are gradually destroyed by keratitis which can result in loss of vision.
• Keratoderma palmoplantar - deafness: A very rare syndrome characterized by deafness and a horny superficial growth on the palms and soles.
• Kleeblattschaedel syndrome: A very rare syndrome characterized mainly by a head the is somewhat cloverleaf shaped.
• Klippel Feil Syndrome: A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
• Klippel Feil deformity conductive deafness absent vagina: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
• Klippel-Feil syndrome recessive type: A rare recessively inherited disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
• Klippel-Feil syndrome, dominant type: A rare dominantly inherited disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
• Kniest dysplasia: A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities.
• Knuckle pads, leukonychia and sensorineural deafness: A very rare syndrome characterized mainly by deafness, knuckle pads and white nails.
• Konigsmark-Knox-Hussels syndrome: A very rare syndrome characterized mainly by deafness and optic atrophy.
• Koroxenidis Syndrome: A very rare condition observed in one family. The condition is characterized by defect in the major blood vessels of the heart and deafness.
• Koussef nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
• Kousseff-Nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
• Krabbe leukodystrophy: A rare inherited biochemical disorder involving the deficiency of an enzyme called galactocerebrosidase. It is a leukodystrophy which refers to a group of genetic disorders that affect the growth of the protective coating around the brain nerves.
• Kurczynski-Casperson syndrome: A very rare syndrome characterized mainly by premature fusion of skull bones, abnormal ears and webbing of the last two toes.
• LADD Syndrome: A very rare genetic disorder characterized by ear, teeth and tear duct abnormalities.
• LEOPARD Syndrome: A rare genetic disorder characterized by multiple lentigines, pulmonic stenosis, widely spaced eyes and deafness.
• Labile hypertension: is the blood pressure which frequently fluctuates
• Labrynthitis: Inner ear condition affecting various ear structures
• Labyrinthitis syndrome: A temporary condition which affects the inner ear workings and impairs hearing. It is often caused by an upper respiratory infection.
• Lacrimoauriculodentodigital syndrome: A rare genetic disorder characterized by ear, teeth and tear duct abnormalities.
• Langerhans Cell Histiocytosis: A condition which is characterized by proliferation of Langerhans cells
• Larsen syndrome, dominant type: A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual dish-shaped face. The dominant form tends to have less severe dwarfism and more severe flattening of the face and is less likely to include webbed fingers, cleft palate and genital anomalies than the recessive form.
• Larsen syndrome, recessive type: A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual face.
• Laryngeal carcinoma: Cancer of the laryngeal area. Smoking and alcohol increase the risk of this cancer.
• Larynx symptoms: Symptoms affecting the larynx (voice box) in the neck
• Lassa fever: Infectious rat-borne West African disease.
• Lateral semicircular canal malformation, familial, with external and middle ear abnormalities: A rare familial syndrome characterized by various internal and external ear abnormalities.
• Latham-Munro syndrome: A rare inherited syndrome characterized by deafness and mutism at birth, epilepsy and myoclonus (muscle twitching).
• Lead poisoning: A type of heavy metal poisoning caused by excessive exposure to lead.
• Leiomyomatosis of esophagus, cataract and hematuria: A very rare syndrome characterized mainly by cataracts, benign esophageal tumors and kidney cell cancer.
• Leiomyomatosis of oesophagus, congenital cataract and hematuria: A rare disorder characterized by congenital cataracts, blood in urine and the development of tumors in the esophagus called a leiomyoma. A leiomyoma is a benign tumor that originates from smooth muscle tissue. These tumors may also be present in the female genital tract and possible in other parts of the body.
• Leprechaunism: A very rare genetic disorder characterized by insulin resistance which leads to growth delay and endocrine system abnormalities.
• Lethal arthrogryposis with anterior horn cell disease: A lethal genetic disorder involving multiple contractures and facial abnormalities.
• Lethal arthrogryposis with anterior horn cell disease (LAAHD): A lethal disorder characterized by arthrogryposis and loss of anterior horn motor neurons which results in a lack of fetal movement.
• Letterer-Siwe disease: A rare usually fatal condition characterized by skin lesions, bleeding tendency, enlarged liver and spleen, enlarged lymph nodes and progressive anemia. The condition is caused by excessive proliferation of histiocytes.
• Leukodystrophy: A very rare group of metabolic diseases where chemical anomalies affect the development or maintenance of the protective coating around nerves (myelin sheath). The brain, spinal cord and peripheral nerves may be involved. The range and severity of symptoms is determined by the chemical involved but one of the main symptoms for all the leukodystrophies is a gradual loss of previously acquired mental or physical skills.
• Leukomalacia: Softening or destruction of the white matter of the brain. Brain tissue that surrounds fluid-filled parts of the brain (ventricles) is destroyed. It tends to occur mainly in premature or newborn babies who have been deprived of oxygen or have poor blood flow to parts of the brain. Intrauterine infections and premature membrane rupture tend to predispose infants to this condition. This type of brain destruction can cause cerebral palsy. Severity of symptoms varies according to the degree of injury to the brain.
• Licorice-induced hypertension: Licorice-induced hypertension is a relatively quick increase in blood pressure due to eating licorice (either in the form of candy or as a herb). Blood pressure usually resumes to normalisation quite rapidly. Patients with existing blood pressure problems should avoid consuming licorice as it can cause their blood pressure to rise to dangerously high levels.
• Lidocaine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
• Linguatula serrata infection: Infection with a parasite called Linguatula serrata. Infection usually occurs through eating raw liver or lymph nodes from infected sheep or goats. Symptoms are usually caused by the larva migrating through parts of the body.
• Lipidosis with triglyceride storage disease: A very disorder involving abnormal storage of fat (triglycerides in parts of the body). The condition causes blood abnormalities as well as skin, eye and hearing problems.
• Lisinopril - Teratogenic Agent: There is evidence to indicate that exposure to Lisinopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Lithium toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
• Lobstein disease: A group of rare inherited diseases that involves fragile bones. There are many different types based on the severity and extent of symptoms. Some types are severe enough to cause stillbirth or infant death whereas other types may cause few if any problematic symptoms.
• Loffredo-Cennamo-Cecio syndrome: A very rare syndrome characterized mainly by scaly skin and small eyes.
• Lop ears, Micrognathia and Conductive Hearing Loss: A very rare condition (described in only a few families) characterized by a small jaw, conductive hearing loss and abnormal ears.
• Lower limb anomaly - ureteral obstruction: A very rare syndrome characterized mainly by an obstructed ureter and a leg anomaly.
• Lowry syndrome: A rare disorder characterized by the premature fusion of skull bones, absent or defective lower leg bone (fibula) and various other abnormalities.
• Lowry-Maclean syndrome: A very rare syndrome characterized mainly by mental retardation, retarded growth, glaucoma, congenital heart defects and premature fusion of skull bones.
• Lumbar malsegmentation - short stature: A very rare syndrome characterized mainly by short stature and abnormal segmentation of the vertebrae in the abdominal segment of the spine.
• Lumbar malsegmentation, short stature and facial anomalies: A rare syndrome characterized by vertebral abnormalities, short stature and facial anomalies.
• Lutz-Richner-Landolt syndrome: A rare disorder involving kidney and biliary abnormalities.
• Lymphangiectasies and lymphedema Hennekam type: A rare disorder characterized by buildup of lymphatic fluid in the limbs, face and genitals, seizures and mental and growth retardation.
• Lymphocytic choriomeningitis: Rodent-borne viral disease often causing meningitis or encephalitis
• Lymphoedema - lymphangiectasia - mental retardation: A rare disorder characterized by buildup of lymphatic fluid in the limbs, face and genitals, seizures and mental and growth retardation.
• MELAS: A mitochondrial disorder characterized by stroke-like episodes, headaches, vomiting and other neurological symptoms.
• MGA 4: MGA (methylglutaconic aciduria) is a rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3.
• MPS 3 C: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to deficiency of an enzyme called acetyl-CoA:alpha-glucosamide N-acetyltransferase. Mucopolysaccharide levels build up and are then deposited in various tissues.
• MRXS-Christianson: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• MURCS Association: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
• Maghazaji syndrome: A rare syndrome characterized by enlargement of some fingers as well as the underdevelopment of the lower half of one side of the face.
• Malignant hypertension: Malignant hypertension is a condition characterized by very high blood pressure and swelling of the optic nerve. This type of hypertension is more common in people with kidney problems such as narrowed kidney blood vessels. The condition is a medical emergency which can cause organ damage if not treated promptly.
• Mandibuloacral dysplasia: A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. There are two subtypes with type B involving loss of fat layers under the skin mainly in the extremities, face and trunk whereas type A involves mainly the extremities. The severity of the symptoms is variable.
• Mandibuloacral dysplasia with type A lipodystrophy: A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. Loss of fat layers under the skin occurs mainly in the extremities in type B. The severity of the symptoms is variable.
• Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive: A rare, recessively inherited disorder characterized mainly by eye, face, mouth, ear and skull abnormalities.
• Mann syndrome: Symptoms caused by trauma resulting in bruising of the brain. When standing with their eyes closed, patients tend to sway towards the side of the brain injury.
• Mannosidosis, alpha B lysosomal: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage.
• Marden-Walker-like syndrome: A very rare syndrome characterized mainly by long, thin fingers, contractures from birth and narrow eye slits.
• Marshall syndrome: A rare genetic disorder characterized by a distinctive face and vision and hearing impairment.
• Mastocytosis - short stature - hearing loss: A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment.
• Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia: A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment.
• Maternally inherited diabetes and deafness: A rare disorder characterized by deafness associated with noninsulin-dependent diabetes mellitus.
• Maternally inherited diabetes and deafness with cardiomyopathy: A rare inherited disorder characterized by deafness, heart muscle disease and diabetes.
• May-White syndrome: A rare inherited disorder characterized by involuntary muscle twitching, balance and coordination problems (cerebelar ataxia) and hearing loss.
• Mayer-Rokitansky-Kuster-Hauser, syndrome, type 2 (MRKH type 2): A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
• McDonough syndrome: A very rare syndrome characterized mainly by mental retardation and multiple birth abnormalities such as heart defects, undescended testes, curved spine and distinctive facial appearance.
• McGillivray syndrome: A very rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia.
• Measles: Once common viral infection now rare due to vaccination.
• Medrano-Roldan syndrome: A very rare syndrome characterized mainly by mental retardation, reduced muscle tone and increased skin pigmentation.
• Megarbane-Loiselet syndrome: A rare syndrome characterized mainly by deafness and branchial anomalies.
• Mehes syndrome: A very rare syndrome characterized mainly by delayed speech, an asymmetrical face, crossed eyes and ear lobe creases.
• Meier-Rotschild syndrome: A rare disorder characterized mainly by short stature, small ears and absent kneecaps.
• Melnick-Fraser syndrome: A rare genetic disorder characterized by hearing loss and kidney malformations. Type 1 involves a defect on the EYA1 gene on chromosome 8q13.3.
• Mende syndrome: A rare condition characterized by congenital deafness, mutism, partial albinism and a mongoloid face as well as other anomalies.
• Meningitis: Infection of the membrane around the brain (as a symptom)
• Meningococcal A: Meningococcal meningitis is an infection that causes inflammation of the membranes covering the brain and spinal cord. Meningococcal meningitis A is caused by meningococcus A which is mostly common in hyperendemic areas in Africa known as the meningitis belt.
• Meningococcal B: Meningococcal meningitis B is an infection that causes inflammation of the membranes covering the brain and spinal cord.
• Meningococcal C: Meningitis C is a strain of meningococcal meningitis, a bacterial infection of the membranes surrounding the brain and spinal cord.
• Meningococcal disease: Dangerous bacterial infection causing meningitis or bacteremia.
• Mental Retardation - Pterygia - Shortness - Distinctive Facial Appearance: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Mental mixed retardation - deafness - clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
• Mental mixed retardation deafnes clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
• Mental retardation - arachnodactyly - hypotonia - telangiectasia: A very rare syndrome characterized mainly by mental retardation, short fingers, reduced muscle tone and spider veins (telangiectasia).
• Mental retardation - blepharophimosis - obesity - web neck: A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck.
• Mental retardation - epilepsy - bulbous nose: A very rare syndrome characterized mainly by mental retardation, epilepsy and a bulbous nose. The condition has been reported in only two families.
• Mental retardation - short stature - cleft palate - unusual facies: A very rare syndrome characterized mainly by short stature, mental retardation, cleft palate and facial anomalies.
• Mental retardation - short stature - deafness - genital: A very rare syndrome characterized mainly by mental retardation, short stature, deafness and genital abnormalities.
• Mental retardation X-linked dysmorphism: A very rare syndrome characterized mainly by mental retardation, partially dislocated knees and teeth and facial abnormalities.
• Mental retardation cataracts calcified pinnae myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Mental retardation unusual facies ampola type: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
• Mental retardation, Microcephaly, Epilepsy and Ataxia Syndrome: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Mental retardation, Wolff type: A very rare syndrome characterized mainly by severe mental retardation and facial anomalies. The parents came from the same bloodline.
• Mental retardation, X-linked - craniofacial dysmorphology - epilepsy - ophthalmoplegia - cerebellar atrophy: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Mental retardation, X-linked - hypotonic face: A group of syndromes characterized mainly by mental retardation and reduced tone in the facial muscles. Various other abnormalities may be present.
• Mental retardation, X-linked, 45: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the zinc finger protein-81 gene on chromosome Xp22.1-p11.
• Mental retardation, X-linked, 93: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the BRWD3 gene. Female carriers may also suffer from some mental deficiency.
• Mental retardation, X-linked, Brooks type: A rare syndrome characterized by mental retardation, unusual facial appearance and retarded growth.
• Mental retardation, X-linked, Wittwer type: A rare disorder characterized by severe mental retardation, retarded growth, seizures and vision and hearing problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
• Mental retardation, X-linked, syndromic 11: A rare form of mental retardation inherited in a X-linked manner. It is also associated with an unusual facial appearance and results from a defect on chromosome Xq26-q27. Female carriers tended to have some degree of facial dysmorphism but no mental retardation.
• Mental retardation, X-linked, syndromic type 11: A rare form of mental retardation inherited in a X-linked manner. It is also associated with an unusual facial appearance and results from a defect on chromosome Xq26-q27. Female carriers tended to have some degree of facial dysmorphism but no mental retardation.
• Mental retardation, X-linked, syndromic, due to JARID1C mutation: A rare disorder characterized by mental retardation, spasticity and other variable features. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The disorder is caused by a defect on the JARID1C gene on chromosome Xp11.22-p11.21.
• Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance: A very rare syndrome characterized by moderate to severe mental retardation, unusual facial appearance and an underdeveloped brain.
• Mephenytoin - Teratogenic Agent: There is evidence to indicate that exposure to Mephenytoin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Mercury poisoning: A type of heavy metal poisoning caused by excessive exposure to mercury.
• Mesomelia radial hypoplasia bifid thumb unusual facies: A rare syndrome characterized mainly by skeletal abnormalities, dwarfism and hair, nail, skin and teeth abnormalities.
• Metaphyseal chondrodysplasia, recessive type: A recessively inherited skeletal disorder characterized by abnormal development of the bone metaphyses which results in short stature from birth.
• Metapneumovirus: A type of viral respiratory infection which was first discovered early in the 21st century. The infection tends to occur mainly in children and infants or the elderly. The incubation period is probably less than a week and the virus is transmitted through large droplets or contact with contaminated surface or objects e.g. used tissue. Symptoms are usually mild but may be severe in some cases.
• Methahemoglobinemia: Excess methahemoglobin in the blood
• Methotrexate - Teratogenic Agent: There is evidence to indicate that exposure to Methotrexate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Metronidazole - Teratogenic Agent: There is evidence to indicate that exposure to Metronidazole during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Microcephaly - cervical spine fusion anomalies: A very rare syndrome characterized mainly by a small head and fused neck vertebrae.
• Microcephaly - deafness syndrome: A very rare syndrome characterized mainly by a small head and deafness.
• Microcephaly brachydactyly kyphoscoliosis: A very rare syndrome characterized by the association of profound mental retardation, a small head, short digits and a curved spine.
• Microcephaly immunodeficiency lymphoreticuloma: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. There are a wide range of other abnormalities and symptoms that can occur.
• Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
• Microcephaly, holoprosencephaly, and intrauterine growth retardation: A rare syndrome involving a small head, retarded fetal growth and holoprosencephaly (brain malformation where the two halves of the brain fail to separate).
• Microdontia - type I microtia - deafness: A rare syndrome characterized mainly by small dears, small teeth and deafness.
• Microphthalmia syndromic, type 6: A rare inherited syndrome characterized mainly by small eyes, malformed ears, small jaw and finger and genital abnormalities. The symptoms are variable to some degree.
• Microphthalmia syndromic, type 9: A rare inherited disorder characterized by small or absent eyes and lung, heart and diaphragmatic abnormalities. The disorder is caused by a defect on the STRA6 gene.
• Microsomia - hemifacial - radial defects: A very rare syndrome characterized mainly by a wide range of defects involving the face, ear, mouth, vertebrae and radial bones.
• Middle ear infection: An infection which occurs in the middle ear
• Miescher syndrome (2): A rare inherited disorder characterized by pigmented velvety patches of skin, excess body hair, failure to thrive, retarded growth, diabetes and facial abnormalities.
• Migraine: Severe complex headaches that occur periodically
• Migraine with aura, susceptibility to, 9: A form of migraine caused by a genetic defect on chromosome 5q21. Physical activity can exacerbate symptoms. The headaches can last between 4 hours and 3 days.
• Migraine with or without aura, susceptibility to, 1: A form of migraine caused by a genetic defect on chromosome 4q24. Physical activity can exacerbate symptoms. The headaches usually last between 4 hours and 3 days.
• Migraine with or without aura, susceptibility to, 10: A form of migraine caused by a genetic defect on chromosome 17p13. Physical activity can exacerbate symptoms. The headaches can last between 4 hours and 3 days.
• Migraine with or without aura, susceptibility to, 11: A form of migraine caused by a genetic defect on chromosome 18q12. Physical activity can exacerbate symptoms.
• Migraine with or without aura, susceptibility to, 2: A form of migraine caused by a genetic defect on chromosome Xq. Physical activity can exacerbate symptoms. The headaches can last between 4 hours and 3 days.
• Migraine with or without aura, susceptibility to, 3: A form of migraine caused by a genetic defect on chromosome 6p21.2-p12.2. Physical activity can exacerbate symptoms. The headaches tend to last for more than twelve hours and can occur as often as weekly and as rarely as yearly.
• Migraine with or without aura, susceptibility to, 4: A form of migraine caused by a genetic defect on chromosome 14q21.2-q22.3. Physical activity can exacerbate symptoms. The headaches can last between 4 hours and 3 days.
• Migraine with or without aura, susceptibility to, 5: A form of migraine caused by a genetic defect on chromosome 19p13. Physical activity can exacerbate symptoms. The headaches can last between 4 hours and 3 days.
• Migraine with or without aura, susceptibility to, 6: A form of migraine caused by a genetic defect on chromosome 1q31. Physical activity can exacerbate symptoms.
• Migraine with or without aura, susceptibility to, 7: A form of migraine caused by a genetic defect on chromosome 15q11.2-q12. Physical activity can exacerbate symptoms. The headaches can last between 4 hours and 3 days.
• Migraine with or without aura, susceptibility to, 8: A form of migraine caused by a genetic defect on chromosome 5q21. Physical activity can exacerbate symptoms.
• Minamata disease: Ingestion of seafood containing methylmercury can result in neurological toxicity symptoms.
• Minicore disease: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The rate of progression and severity of symptoms is variable.
• Minicore myopathy, antenatal onset, with arthrogryposis: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The antenatal form with arthrogryposis is distinguished by the presence of contractures at birth due to reduced fetal movement as well as various physical anomalies. The severity of symptoms is variable.
• Minoxidil (topical) - Teratogenic Agent: There is evidence to indicate that exposure to Minoxidil (topical) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Mitochondrial diseases: Any of a group of mitochondrial disorders affecting cell metabolism and especially muscles.
• Mitochondrial diseases, clinically indefinite: An inherited biochemical disorder which can affect many body systems such as the skeleton, heart, brain and nervous system.
• Mitochondrial encephalomyopathy - aminoacidopathy: A very rare syndrome characterized mainly by muscle and brain disease and an amino acid disorder.
• Mitochondrial myopathy - lactic acidosis: A very rare syndrome characterized mainly by muscle disease and a metabolic disorder. The severity and progression of the disease is variable with some dying early in their second decade and others living longer.
• Mitochondrial neurogastrointestinal encephalopathy syndrome: A rare genetic disorder which affects a number of body systems and manifests results in symptoms such as droopy eyelids, progressive eye muscle weakness, gastrointestinal dysmotility, brain disease, thin body, peripheral neuropathy and muscle disease.
• Mobius syndrome: Type of facial paralysis.
• Moebius Syndrome: Moebius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis.
• Molarization of anterior teeth deafness: A very rare condition characterized by the association of deafness with molarization of the anterior teeth.
• Mondini Dysplasia: A rare disorder where a part of the ear (cochlea) fails to develop completely causing hearing loss. The hearing loss may be gradual or sudden and the severity may be vary from normal hearing to complete hearing loss. Hearing loss may start in childhood or early adulthood.
• Monosomy 1p36: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The range and severity of symptoms is variable with some cases being relatively mild.
• Monosomy 8q12 21: A very rare chromosomal disorder where a portion of chromosome 8q is missing. The main symptoms include eye, ear and kidney abnormalities as well as mental retardation.
• Monosomy 8q21 q22: A very rare chromosomal disorder where a portion of chromosome 8q is missing resulting in various abnormalities.
• Moraxella catarrhalis infection: An infectious disease caused by Moraxella catarrhalis. Moraxella catarrhalis can be found in the upper respiratory tract and is often harmless and asymptomatic. However, it can also cause ear infections and sinusitis, bronchopulmonary infection as well as other infections.
• Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate - type A, ? galactosidase - type B) needed to break it down. The symptoms are variable with type A and B being clinically indistinguishable.
• Morquio syndrome, type B: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (? galactosidase) needed to break it down.
• Morse-Rawnsley-Sargent syndrome: A very rare syndrome characterized mainly by abnormal brain development and reduced fetal movement.
• Mosse syndrome: A condition involving the association of liver cirrhosis with polycythemia which is a chronic myeloproliferative disorder characterized by the excessive production of mainly red blood cells by the bone marrow.
• Mucoepidermoid: A mucoepidermoid is a type of cancer which is found primarily in the salivary glands (major and minor) but can be found in other glands such as the tear glands, breast gland and thyroid. The cancer develops from squamous, mucus-secreting and intermediate cells.
• Mucoepidermoid Carcinoma: A mucoepidermoid carcinoma is a type of cancer which is found primarily in the salivary glands (major and minor) but can be found in other glands such as the tear glands, breast gland and thyroid. The cancer develops from squamous, mucus-secreting and intermediate cells.
• Mucopolysaccharidoses: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
• Mucopolysaccharidosis II: Disorder of mucopolysaccharide metabolism in juveniles.
• Mucopolysaccharidosis type 2 Hunter syndrome- mild form: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (iduronidate 2-sulfatase) needed to break it down.
• Mucopolysaccharidosis type 2 Hunter syndrome- severe form: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (iduronidate 2-sulfatase) needed to break it down.
• Mucopolysaccharidosis type 6: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (Arylsulfatase ?) needed to break it down.
• Mucopolysaccharidosis type I Hurler syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down. There are three main sub-types of the disorder: Hurler - severe form, Scheie - mild form and Hurler/Scheie form which is intermediate.
• Mucopolysaccharidosis type I Hurler/Scheie syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down.
• Mullerian Aplasia - Renal Aplasia - Cervicothoracic Somite Dysplasia: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
• Mullerian derivatives - lymphangiectasia - polydactyly: A rare syndrome characterized by extra fingers, Mullerian duct remnants and lymphangiectasia.
• Multiminicore disease (MmD): A rare congenital muscle disorder involving weakness and wasting of skeletal muscles. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The rate of progression and severity of symptoms is variable.
• Multiple carboxylase deficiency, propionic acidemia: A disorder of fat metabolism where the body is unable to convert fat to energy due to the lack of a number of enzymes (carboxylases). Sufferers need to eat regularly to prevent symptoms. Symptoms are determined by the size and exact location of the tumor.
• Multiple endocrine abnormalities - adenylyl cyclase dysfunction: A rare syndrome characterized by an enzyme defect (adenylyl cyclase) and a number of endocrine abnormalities.
• Multiple joint dislocations - metaphyseal dysplasia: A rare disorder characterized by multiple joint dislocations and abnormal bone development as well as various other anomalies.
• Multiple pterygium syndrome: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
• Multiple pterygium syndrome lethal type: A rare syndrome characterized by skin, muscle and skeletal anomalies and fetal death.
• Mumps: An acute viral disease that causes the salivary glands to become swollen, sore and inflamed. Immunization had greatly reduced the incidence of this disease.
• Myhre Syndrome: A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features.
• Myhre-Ruvalcaba-Graham syndrome: A rare disorder characterized by mental retardation, retarded growth before and after birth, early-onset deafness and facial anomalies as well as other problems.
• Myoclonus with epilepsy with ragged red fibers: A rare disorder of mitochondrial metabolism characterized by myoclonic epilepsy and ragged-red muscle fibers. Mitochondria are the part of the body cells that produce energy.
• Myopathy - ophthalmoplegia - hypoacousia - areflexia: A rare disorder characterized mainly by muscle weakness, paralysis of eye muscles, lack of reflexes and partial hearing loss.
• Myxedema: The most severe form of hypothyroidism characterized by swelling of extremities and face.
• Ménière's disease: Ear fluid disorder causing balance problems.
• Möbius syndrome: Möbius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis.
• N syndrome: A rare genetic disorder characterized by mental and physical retardation, eye abnormalities, retarded growth, hearing impairment and a high risk of developing cancers, particularly leukemia. It is an extremely rare condition originally described in two brothers.
• NOMID syndrome: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
• Nakajo syndrome: A very rare syndrome characterized mainly by
• Nasal decongestant-induced hypertension: Nasal decongestant-induced hypertension is high blood pressure caused by taking nasal decongestants. Patients with an existing history of hypertension may suffer further blood pressure increases while taking amphetamines and this can be serious. Severity of symptoms varies amongst patients depending on their susceptibility, underlying health and duration of nasal decongestant use.
• Nasodigitoacoustic syndrome: A rare genetic syndrome characterized by abnormalities of the nose, fingers and toes as well as deafness.
• Nasopharyngeal carcinoma: A malignant cancer that occurs in the nasopharynx area which is the upper part of the throat. Often there are no symptoms until the cancer has metastasized to other parts of the body such as the neck.
• Nathalie syndrome: A very rare condition described in four children of one family. The condition is characterized by wasting of the spine muscles, abnormal heart electrical activity, cataracts, hypogonadism and hearing impairment.
• Neck symptoms: Symptoms affecting the neck
• Nephrosis - deafness - urinary tract - digital malformation: A very rare syndrome characterized mainly by kidney disease, deafness and abnormalities of the urinary tract, fingers and toes.
• Nephrosis neuronal dysmigration Syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease. The type and severity of symptoms that can occur is variable.
• Nerve deafness: Deafness that is associated with a defect in the nerve either structurally or functionally
• Nerve sheath neoplasm: Tumors that develop from the protective sheath surrounding nerves. There are two types of nerve sheath tumors: schwannomas and neurofibromas. They most often occur around the spinal cord. Symptoms are determined by the size and exact location of the tumor.
• Neu-Laxova Syndrome: A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage.
• Neuroaxonal dystrophy - renal tubular acidosis: A very rare syndrome characterized mainly by muscle and kidney abnormalities.
• Neuroaxonal dystrophy, infantile: An inherited disorder involving progressive muscular and coordination problems, impaired brain function and speech and vision impairment.
• Neuroectodermal endocrine syndrome: A very rare syndrome characterized mainly by hormonal, hair, skin and brain abnormalities.
• Neurofaciodigitorenal syndrome: A very rare syndrome characterized mainly by
• Neurofibromatosis syndrome Type II: A rare genetic disorder characterized by areas of increased and decreased skin pigmentation, acoustic neuromas and the development of many noncancerous nerve and skin tumors some of which may eventually become malignant - it is a more severe form of type I neurofibromatosis.
• Neurofibromatosis-2: Genetic disorder often leading to tumors on nerves.
• Neuropathy - ataxia - retinitis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
• Neuropathy ataxia and retinis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
• Neuropathy motor sensory type 2 deafness mental retardation: An inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Deafness and mental retardation are also involved.
• Neurosarcoidosis: A rare disorder involving sarcoidosis of the nervous system. Sarcoidosis is a chronic inflammatory disorder that can affect virtually any part of the body. Neurosarcoidosis involves inflammation and abnormal deposits in parts of the nervous system including the brain and spinal cord which affects their functioning. Symptoms may be sudden and severe or may be mild and progress slowly. Symptoms are determined by the degree of nerve involvement.
• Neurosyphilis - general paresis: A complication of untreated syphilis where the infection invades the brain cells and causes a range of neurological symptoms. The condition is progressive and life-threatening.
• Neurosyphilis - meningovascular: A complication of untreated syphilis where the infection invades the central nervous system and causes cranial nerve palsies and pupil abnormalities.
• Neurosyphilis - tabes dorsalis: A complication of untreated syphilis where the infection invades the spinal cord and progressively impairs muscle function and nerve damage may also occur. This form of the condition is progressive and life-threatening.
• Neutropenia - monocytopenia - deafness: A very rare syndrome characterized mainly by deafness and a blood disorder.
• Niemann-Pick disease: A rare inherited biochemical disorder involving the deficiency of an enzyme (acid sphingomyelinase) needed to break down certain lipids which results in an accumulation of these lipids in the body.
• Niemann-Pick disease, type C1: Niemann-Pick disease is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain. The different types of the disease are due to different genetic mutations. Type C is a juvenile or subacute form of the condition which usually starts during childhood and survival into adulthood is possible.
• Nievergelt syndrome: A rare inherited bone disease which causes abnormalities in the lower leg and lower arm bones as well as dwarfism and digit anomalies.
• Nijmegen Breakage Syndrome: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. There are a wide range of other abnormalities and symptoms that can occur.
• Nivelon-Nivelon-Mabille syndrome: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
• Noise-Induced Hearing Loss: Hearing loss from loud noise exposure.
• Non-Food Allergy - Cockroach: A cockroach allergy is an adverse reaction by the body's immune system to cockroaches, in particular their saliva, outer shell, eggs and feces. The specific symptoms that can result can vary amongst patients.
• Non-Food Allergy - dust mites: A mite allergy is an adverse reaction by the body's immune system to dust mites. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary amongst patients.
• Nonkeratan-sulfate-excreting Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down. This disorder is distinguished form other similar conditions by the fact that no keratosulfate is excreted in the urine.
• Nonsyndromic deafness: Hearing loss that occurs without any other symptoms - ie is not associated with any other condition.
• Nonsyndromic hereditary hearing impairment: An inherited form of hearing impairment or deafness that is not associated with any other inherited problems.
• Noonan-like syndrome: A very rare syndrome characterized mainly by heart problems, facial anomalies and a sunken chest.
• Noonan-like/multiple giant cell lesion syndrome: A rare condition characterized by short stature, widely spaced eyes, low-set ears, pulmonary stenosis and lesions on bones, joints or soft tissue. Lymphedema causes swelling that gives a cherubic appearance.
• Nose foreign body: Having a foreign body inserted in a nostril or otherwise in the nose.
• Nyssen-Van Bogaert-Meyer syndrome: A very rare genetic disorder characterized by progressive degeneration of the central nervous system.
• OI, Type I: A genetic condition characterized mainly by fragile bones that fracture easily and blue sclerae. The fractures tend start during early childhood (when walking starts) and becomes worse after menopause or in old age. Fractures tend to heal normally. Type I is the mildest form of osteogenesis imperfecta and results from a reduced amount of normal collagen in the body. Other forms of osteogenesis imperfect tend to involve the presence of abnormal collagen.
• OSMED, Homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Obstructive sleep apnea: Obstructive sleep apnea (OSA) syndrome is characterized by episodic upper airway obstruction that occurs during sleep.
• Oculo cerebro acral syndrome: A very rare syndrome characterized mainly by eye, brain, ear and limb abnormalities.
• Oculo skeletal renal syndrome: A very rare syndrome characterized mainly by eye, skeletal and kidney problems.
• Oculoauriculovertebral (OAV) dysplasia: A congenital condition which affects the eyes, ears and vertebrae.
• Oculocerebral hypopigmentation syndrome, type Preus: A very rare syndrome characterized mainly by eye, brain and pigmentation abnormalities.
• Oculofaciocardiodental syndrome: A very rare syndrome characterized mainly by eye, face, tooth and heart abnormalities.
• Oculopalatocerebral syndrome: A rare inherited syndrome characterized mainly by short stature, small head, mental retardation, cleft palate and eye problems.
• Oculopalatoskeletal syndrome: A very rare syndrome characterized mainly by eye, mouth palate and skeletal abnormalities.
• Okamuto Satomura syndrome: A very rare syndrome characterized mainly by kidney, heart and facial abnormalities as well as reduced muscle tone and mental retardation.
• Olivopontocerebellar atrophy - deafness: A very rare syndrome characterized mainly by brain abnormalities and deafness.
• Onychodystrophy - deafness: A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).
• Opitz G Syndrome: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
• Opitz G/BBB Syndrome: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
• Opitz G/BBB Syndrome, Type II: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: Type I inherited in a X-linked manner and type II is inherited in an autosomal dominant manner.
• Opitz G/BBB Syndrome, X-linked: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner. Females with type I tend to have few if any symptoms - often the only symptom is wide-set eyes.
• Opitz G/BBB Syndrome, type I: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner.
• Opitz G/BBB syndrome, Autosomal dominant: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner.
• Opitz syndrome , X-linked: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
• Opitz-Reynolds-Fitzgerald syndrome: A very rare syndrome characterized mainly by extra little fingers, deafness and bone abnormalities of the face.
• Opthalmoplegia ataxia hypoacusis: A rare disorder characterized by the association of ataxia, impaired hearing and eye movement problems.
• Optic atrophy 1 and deafness: A form of progressive optic nerve dysfunction which results in impaired vision. Deafness is also present and vision loss is usually mild. Some patients develop neurological symptoms later in life. The disorder is caused by a genetic defect (3q28-q29).
• Optic atrophy opthalmoplegia ptosis deafness myopia: A rare syndrome characterized by the association of optic atrophy, ophthalmoplegia, droopy eyelids, deafness and myopia.
• Optic atrophy, deafness and peripheral neuropathy: A very rare syndrome characterized mainly by degeneration of the optic nerve, hearing impairment and peripheral neuropathy. Not all patients will develop peripheral neuropathy.
• Optic atrophy, hearing loss and peripheral neuropathy: A very rare syndrome characterized mainly by degeneration of the optic nerve, hearing impairment and peripheral neuropathy. Not all patients will develop peripheral neuropathy.
• Opticoacoustic nerve atrophy dementia: A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system. Death usually results by about the age of 40 with extensive calcification of all parts of the nervous system.
• Oral cancer: Cancer (malignant) of the lip or inside the mouth.
• Oral facial digital syndrome, type 4: A rare inherited disorder characterized by facial, digital and oral abnormalities. Type IV is differentiated from the other types by the presence of severe shinbone deformity.
• Oral submucous fibrosis: A rare disorder involving inflammation and progressive fibrosis of tissues inside the mouth. The condition starts with redness, blistering and ulceration inside the mouth that is eventually replaced with stiff fibrous tissue as it heals. The inside of the mouth can become stiff and hinder oral functions such as eating, speaking and even opening the mouth. Even the pharynx may occasionally be involved. The condition can become cancerous. The disorder is often associated with chewing betel nuts in Asian and Indian areas.
• Oral-facial cleft: A birth defect involving an opening or cleft in the upper lip as well openings or clefts in the soft or hard palate (roof of the mouth)
• Orofaciodigital syndrome, Shashi type: A rare genetic disorder involving oral, facial and digital abnormalities as well as the absence of the pituitary gland.
• Oropharyngeal cancer: Oropharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the oropharynx. The oropharynx is the middle part of the pharynx (throat) behind the mouth, and includes the back one-third of the tongue, the soft palate, the side and back walls of the throat, and the tonsils.
• Oropharyngeal cancer, adult: Cancer of the back of the mouth which forms part of the throat including the back of the tongue, tonsils, part of the throat wall and soft palate (oropharynx).
• Orthomyxovirus-related Cold: An Orthomyxovirus-related cold is a relatively minor contagious infection of the nose and throat caused by the Orthomyxovirus. Although colds can cause discomfort they are not considered a serious condition.
• Ossified Ear cartilages with Mental deficiency, Muscle Wasting and Bony Changes: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Osteochondrodysplatic dwarfism - deafness - retinitis pigmentosa: A rare syndrome characterized by extreme dwarfism, deafness, progressive scoliosis and retinal pigment anomalies.
• Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
• Osteogenesis imperfecta Type I: A rare genetic connective tissue disorder characterized by fragile bones, blue sclerae and hyperextensible joints.
• Osteogenesis imperfecta congenita, microcephaly, and cataracts: A rare genetic connective tissue disorder charactedrized by blue sclerae, cataracts and microcephaly - a lethal form of osteogenesis imperfecta.
• Osteogenesis imperfecta, type 1A: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a type of osteogenesis imperfecta I where the teeth are opalescent and blue sclerae may be absent.
• Osteogenesis imperfecta, type 1B: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a milder form of osteogenesis imperfecta I where the teeth are normal and blue sclerae may be absent.
• Osteogenesis imperfecta, type 2: A rare lethal form of the genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities.
• Osteogenesis imperfecta, type 2A: A rare lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIA has a different origin of the genetic mutation but the clinical features are similar. Type IIA involves a defect on the COL1A2 gene. The main difference is that type IIA tends to involve a large head and dark blue eyes.
• Osteogenesis imperfecta, type 3: A rare genetic connective tissue disorder characterized by progressive limb deformity and normal sclerae.
• Osteogenesis imperfecta, type 4: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae - a form of OI involving moderate osteoporosis and no joint hyperextensibility.
• Osteogenesis imperfecta, type IIB: A rare, recessively inherited, lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIB has a different origin of the genetic mutation but the clinical features are similar. Type IIB involves a defect on the CRTAP gene on chromosome 3p22. The main difference is that type IIA tends to involve a small head and white or light blue eyes.
• Osteopathia striata, cranial sclerosis: A rare disorder characterized by striations along most long bones as well as increased bone density in the skull which is associated with various craniofacial defects.
• Osteopetrosis autosomal dominant type 1: A very rare dominantly inherited syndrome characterized mainly by increased bone density. The increased bone density results because old bone is not resorbed and replaced with new bone. Only 33 cases in 3 families have been reported. In type I, the increased bone density occurs throughout the body with the skull being the most affected. There is no associated increase in risk of fractures. Many cases are asymptomatic.
• Osteopetrosis autosomal dominant type 2: A very rare dominantly inherited syndrome characterized mainly by increased bone density that affects mostly the spine, pelvis and base of the skull. The increased bone density results because old bone is not resorbed and replaced with new bone.
• Osteopetrosis lethal: A severe, lethal form of the brittle bone condition called osteopetrosis.
• Osteoporosis-pseudoglioma syndrome: A rare genetic disorder characterized by early onset of osteoporosis (during childhood) and loss of vision resulting from retinal detachment due to a retinal pseudoglioma (inflammatory eye condition).
• Osteosclerosis, abnormalities of nervous system and meninges: A very rare syndrome characterized mainly by increased bone density and nervous system abnormalities.
• Otitis: Any type of ear inflammation or infection (otitis)
• Otitis externa: Infection of the outer ear canal
• Oto-Palatal-digital syndrome: A very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe.
• Oto-palato-digital syndrome, type 2: A rare genetic disorder characterized by head, face, mouth and bone abnormalities.
• Oto-spondylo-megaepiphyseal dysplasia, autosomal recessive: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Oto-spondylo-megaepiphyseal dysplasia, homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Otodental dysplasia: A very rare syndrome characterized mainly by ear and tooth abnormalities. The back teeth are large and have bulbous crowns without the normal grooves and features.
• Otopalatodigital Syndrome Type I: A rare genetic disorder characterized by ear, palate, skull, face, finger, toe and other skeletal abnormalities. Type 1 is a milder form of the condition than type 2. Males tend to have more severe symptoms than females who may exhibit only facial anomalies.
• Otopalatodigital Syndrome Type I and II: A rare genetic disorder characterized by ear, palate, skull, face, finger, toe and other skeletal abnormalities.
• Otorrhea: Any discharge that occurs from the ear
• Otosclerosis: Genetic ear bone disorder
• Otosclerosis, familial: Increased density of bones of the inner and middle ear which can affect hearing. Complete hearing loss is rare and progression is often slow.
• Otospondylomegaepiphyseal dysplasia: A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features.
• Paget disease juvenile type: A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild.
• Paget's disease of bone: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile.
• Paget's disease, type 1: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile. Type 1 is caused by a mutation on chromosome 6p21.3.
• Paget's disease, type 4: A rare disorder involving pigmentation and vascular abnormalities. The lesions usually involve large areas of the body and the pigmentation color can include pink, bluish and brown.
• Pallister Killian Mosaic Syndrome: Pallister Killian Mosaic Syndrome is a very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Pallister Mosaic Syndrome Tetrasomy 12p: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Paraganglioma: A rare, usually benign tumor most often found in the abdomen, chest, head and neck areas. The tumor develops from glomus cells which are located along blood vessels involved in automatic body activities such as regulation of blood pressure and blood flow. Symptoms may vary depending on the exact location of the tumor.
• Paramyxovirus -related Cold: A Paramyxovirus-related cold is a relatively minor contagious infection of the nose and throat caused by the Paramyxovirus. Although colds can cause discomfort they are not considered a serious condition.
• Partial 7p Monosomy: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Partial Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of only part of chromosome 18 in the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of the whole of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved and how much of the chromosome is involved.
• Patterson pseudoleprechaunism syndrome: A very rare disorder characterized by excessive pigmentation, looks skin, unusual face, several mental retardation and bone abnormalities.
• Patterson-Stevenson syndrome: A very rare syndrome characterized mainly by a missing fingers giving the hand a split appearance as well as jaw and face abnormalities.
• Pediatric gastroesophageal reflux disease: Gastroesophageal reflux is defined as the retrograde movement of gastric contents into the esophagus; it is a physiologic process that occurs in everyone, young and old, particularly after meals. Researchers have found that 10 percent of infants (younger than 12 months) with GER develop significant complications. The diseases associated with reflux are known collectively as Gastro-Esophageal Reflux Disease (GERD).
• Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Pendred syndrome: An inherited condition characterized by hearing loss and goiter formation. The enlarged thyroid gland often continuges to function normally.
• Perforated eardrum: Hole occurring in the eardrum
• Perichondritis: Inflammation of cartilage and surrounding soft tissue.
• Perilymphatic fistula: An abnormal opening between the fluid-filled inner ear and air-filled middle ear. It generally causes sudden or fluctuating hearing loss.
• Perinatal-lethal Gaucher disease: A disorder caused by a deficiency of an enzyme called glucocerebrosidase. The foetal form is one of several forms of Gaucher disease and is the rarest. The fetal form causes death before birth or soon after.
• Periodic paralysis, potassium-sensitive, cardiodysrythmic type: A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium. Periodic paralysis may start as early as infancy or during the second decade and is triggered by exercise, stress or prolonged periods of rest.
• Peripheral Neuropathy - Intestinal Pseudo-Obstruction - Deafness: A reported case involving chronic intestinal pseudo-obstruction, deafness from birth and peripheral neuropathy.
• Peroxisomal bifunctional enzyme deficiency: A rare disorder involving abnormal steroid metabolism due to an enzyme 17-beta-hydroxysteroid dehydrogenase 4) deficiency. The symptoms which make the condition appear very similar to another condition called neonatal adrenoleukodystrophy.
• Petty-Laxova-Wiedemann syndrome: A very rare syndrome characterized mainly by premature aging involving the face, skin and hair as well as other anomalies.
• Pfeiffer Syndrome Type I: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity. Type I is the mildest of the three Pfeiffer Syndrome subtypes.
• Pfeiffer syndrome: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
• Pfeiffer syndrome Type 2: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include craniofacial and cardiovascular malformations with death often occurring early.
• Pfeiffer syndrome Type 3: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include craniofacial abnormalities, cardiovascular malformations and early death is common.
• Phacomatosis pigmentokeratotica: A very rare syndrome characterized mainly by abnormally pigmented areas on the skin which is associated with neurological problems. The skin pigmentation spreads and generally occurs only on one side of the body.
• Phenytoin - Teratogenic Agent: There is evidence to indicate that exposure to Phenytoin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Pheochromocytoma-induced hypertension: Pheochromocytoma-induced hypertension is high blood pressure caused by an adrenal gland tumor. The high blood pressure often responds poorly to the usual medications. Death can result in severe cases.
• Phocomelia - contractures - absent thumb: A very rare syndrome characterized mainly by absent thumbs, contractures and missing arm and leg bones.
• Phocomelia - thrombocytopenia - encephalocele - urogenital malformation: An early congenital condition that is characterized by multiple congenital anomalies. The severity and range of abnormalities may vary amongst patients.
• Phocomelia ectrodactyly deafness sinus arrhythmia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
• Phocomelia ectrodactyly ear malformation deafness sinus arrhythmia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
• Phosphoribosylpyrophosphate synthetase superactivity: A rare X-linked metabolic disorder caused by the excessive activity of a particular enzyme (Phosphoribosylpyrophosphate synthetase). The main manifestations are increased production of uric acid and purine nucleotide.
• Piepkorn karp hickoc syndrome: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
• Pierre Robin sequence - congenital heart defect - talipes: A very rare syndrome characterized mainly by an abnormal foot position (talipes), congenital heart defect small jaw, cleft soft palate and a tongue abnormality (glossoptosis).
• Pierre Robin syndrome - fetal chondrodysplasia: A very rare inherited disorder involving bone growth abnormalities, impaired hearing and a characteristic face.
• Pierre-Robin syndrome with fetal chondrodysplasia: A very rare inherited disorder involving bone growth abnormalities, impaired hearing and a characteristic face.
• Pinealoma: A slow-growing type of brain tumor that occurs in the pineal gland. The pineal gland produces a hormone called melatonin which is involved in regulating sleep patterns.
• Pineoblastoma, adult: A rare type of highly malignant brain tumor that usually occurs in children. The tumor develops in the pineal region of the brain.
• Plant poisoning - Lobeline: Lobeline is a chemical found naturally in plants called lobelias. Ingesting plants containing the chemical produces symptoms similar to the effects of nicotine.
• Pneumococcus: Bacteria causing ear infections, pneumococcal pneumonia, and pneumococcal meningitis.
• Pollitt syndrome: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Polychondritis: A serious, progressive, episodic condition characterized by inflammation and degeneration of cartilage in the body. The duration and severity of the episodes can vary.
• Polydactyly cleft lip palate psychomotor retardation: A very rare syndrome described in a small inbred group of families and characterized by bifid toes, extra big fingers, cleft lip or palate and psychomotor retardation. There were various other symptoms that were variably present.
• Polyostotic osteolytic dysplasia, hereditary expansile: A very rare syndrome characterized by severe bone pain and deformity as well jaw and ear abnormalities. Deafness usually starts in the first decade. Bone symptoms such as pain usually start in the second decade.
• Potter syndrome: A congenital condition involving absence of kidneys resulting in decreased amniotic fluid and compression of the fetus. The affected baby has leg deformities, poorly developed lungs and a wrinkled, flattened facial appearance and often don't survive.
• Potter syndrome type 2: A term that describes the physical appearance that occurs when kidney disease results in a reduced volume of amniotic fluid. In type 2, one kidney is absent and the other is small and malformed.
• Powell-Chandra-Saal syndrome: A very rare syndrome characterized mainly by webbed joints and heart, vertebral, ear and radial defects.
• Prednisone - Teratogenic Agent: There is evidence to indicate that exposure to Prednisone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Premature aging, Okamoto type: A form of premature aging.
• Presbycusis: High frequency hearing loss associated with difficulty in speech differentiation.
• Primary ciliary dyskinesia: A very rare disorder where the cilia fail to move. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Primary ciliary dyskinesia, 2: A very rare disorder where the cilia fail to move. Type 2 differs from the other forms of primary ciliar dyskinesia in the location of the genetic defect (19q13.3qter). The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Primary ciliary dyskinesia, 3: A very rare disorder where the cilia fail to move. Type 3 differs from the other forms of primary ciliar dyskinesia in the location of the genetic defect (5p). The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Primary ciliary dyskinesia, 4: A very rare disorder where the cilia fail to move. Type 4 differs from the other forms of primary ciliar dyskinesia in the location of the genetic defect (15q13.1-q15.1). The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Primary ciliary dyskinesia, 5: A very rare disorder where the cilia fail to move. Type 5 differs from the other forms of primary ciliar dyskinesia in the location of the genetic defect (16p12.2-p12.1). The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Primary ciliary dyskinesia, 6: A very rare disorder where the cilia fail to move. Type 6 differs from the other forms of primary ciliar dyskinesia in the location of the genetic defect (7p14-p13). The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Primerose syndrome: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Primrose Syndrome: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Progeria short stature pigmented nevi: A very rare inherited disorder characterized by premature aging, short stature, and immune system deficiency. The type and severity of symptoms is variable.
• Progeroid syndrome, neonatal: A rare congenital condition characterized by poor growth, aged facial appearance, and mental retardation. Death occurs usually by 6 years of age.
• Progressive hearing loss stapes fixation: A rare condition characterized by hearing loss, fixation of stapes (ear bone which causes conductive deafness if it becomes fixed and immovable) and reduced vestibular response.
• Propylthiouracil - Teratogenic Agent: There is evidence to indicate that exposure to Propylthiouracil during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Proximal tubulopathy - diabetes mellitus - cerebellar ataxia: A very rare syndrome characterized mainly by diabetes, movement disorder and kidney abnormality. Death often occurs during childhood.
• Pseudoadrenoleukodystrophy: A rare disorder where an enzyme deficiency (Acyl-CoA Oxidase) results in symptoms such as seizures, apnea, delayed psychomotor retardation and neurological deterioration.
• Pseudoaminopterin syndrome: A very rare condtion characterized by mental and physical retardation, skull abnormalities and skeletal defects. The symptoms observed are similar to those caused by aminopterin which was once used to induce abortions but in the pseudo form there is no evidence of exposure to aminopterin.
• Pseudopapilledema - blepharophimosis - hand anomalies: A very rare syndrome characterized mainly by malformations involving the hands, feet ears and face as well as deafness.
• Psychiatric disorders: Any condition that affects ones mind
• Psychological disorders: Any condition that affects ones mind
• Pterygia - Mental retardation - Distinctive Craniofacial Features: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Ptosis - coloboma - trigonocephaly: A very rare syndrome characterized mainly by droopy eyelids, coloboma and triogoncephaly as well as other variable features.
• Purine nucleoside phosphorylase deficiency: A very rare genetic disease involving an enzyme (purine nucleoside phosphorylase - PNP) deficiency which causes a buildup of toxic metabolic products which in turn impairs the development of T-cells (part of the body's immune system). The condition is characterized primarily by frequent infections and various neurological symptoms.
• Pyknoachondrogenesis: A very rare lethal syndrome characterized mainly by abnormal skeletal growth as well as abnormal bone calcification.
• Pyle disease: A rare genetic disorder characterized by numerous bone abnormalities as well as loss of vision and hearing.
• Quinapril - Teratogenic Agent: There is evidence to indicate that exposure to Quinapril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Quinine - Teratogenic Agent: There is evidence to indicate that exposure to Quinine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Rabies: An infectious disease that can affect any mammal including humans and is transmitted through the saliva of an infected animal. The infectious agent is the Neurotropic lyssavirus which affects the salivary gland and also causes neurological symptoms.
• Radial defect - Robin sequence: A very rare syndrome characterized mainly by abnormal forearm bone, club foot, finger and toe abnormalities and a cleft palate.
• Raine syndrome: A very rare syndrome characterized mainly by increased bone density which ultimately results in death.
• Ramipril - Teratogenic Agent: There is evidence to indicate that exposure to Ramipril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Ramos-Arroyo Syndrome: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
• Ramos-ArroyoClark syndrome: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
• Ramsay Hunt I syndrome: Reactivation of the chicken pox virus wich affects the facial nerves.
• Ramsay Hunt syndrome: Facial paralysis with a vesicular eruption
• Rapp-Hodgkin syndrome: A rare genetic multi-system disorder characterized by skin, teeth, hair and/or nail abnormalities, reduced ability to sweat and oral clefts.
• Raynaud's phenomenon: A condition where the body extremities sweat and turn blue and cold. Exposure to cold, emotional stress and smoking may trigger the condition. Also known as acrocyanosis.
• Reardon-Wilson-Cavanagh syndrome: A rare genetic syndrome characterized by progressive ataxia, deafness and mental retardation.
• Recurring airway infection:
• Reduced hearing: A reduction from normal of someone's hearing
• Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
• Refsum disease, infantile form: A rare inherited biochemical disorder characterized by normal development initially followed by degeneration, facial anomalies and enlarged liver.
• Relapsing polychondritis: A chronic disease that affects multiple joints resulting in inflammation and degeneration
• Renal adysplasia dominant type: An inherited disorder of kidney development where either one kidney fails to develop normally, one kidney is absent, one kidney fails to develop normally and one kidney is absent or both kidneys are absent. Severity of the condition is highly variable: if there is one normal kidney the condition can be asymptomatic but if both kidneys are absent then the condition is lethal.
• Renal agenesis, bilateral: A rare congenital malformation where the kidneys don't develop during the fetal stage resulting in insufficient amniotic fluid.
• Renal caliceal diverticuli - deafness: A very rare syndrome characterized mainly by deafness and urinary tract and kidney anomalies.
• Renal dysplasia hepatic fibrosis dandy walker: A rare syndrome characterized mainly by abnormal kidneys, liver fibrosis and a Dandy-Walker brain malformation.
• Renal hypertension: Renovascular hypertension is high blood pressure resulting from narrowing or damage to kidney blood vessels which prevents the blood from flowing through the kidneys properly.
• Renal tubular acidosis progressive nerve deafness: A kidney disorder where progressive nerve deafness is associated with the kidney's is inability to effectively remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine.
• Renal tubulopathy - diabetes mellitus - cerebellar ataxia: A very rare condition characterized by rapidly progressive diabetes, kidney disease and cerebellar ataxia. Symptoms develop during the first five years.
• Renal-genital-middle ear anomalies: A very rare syndrome characterized mainly by kidney, genital and middle ear abnormalities.
• Renier-Gabreels-Jasper syndrome: A very rare inherited syndrome characterized by a small head, severe mental retardation, spasticity, deafness and epilepsy.
• Renovascular Hypertension: Renovascular hypertension is high blood pressure resulting from narrowing or damage to kidney blood vessels which prevents the blood from flowing through the kidneys properly.
• Resistant hypertension: Resistant hypertension is a form of high blood pressure that doesn't respond to treatment. Blood pressure remains high even when a combination of three drugs is used. It can be caused by such things a secondary hypertension, fluid retention or if the patient doesn't stick to the treatment plan.
• Respiratory Syncytial Virus Infections: A very contagious viral infection that causes respiratory diseases. It generally only causes common cold-like symptoms in adults but can be serious in young children, infants, the elderly and people with a weakened immune system.
• Respiratory syncytial virus-related Cold: A Respiratory syncytial virus-related cold is a relatively minor contagious infection of the nose and throat caused by the Respiratory syncytial virus. Although colds can cause discomfort they are not considered a serious condition.
• Retinis pigmentosa - deafness - hypogenitalism: A very rare syndrome characterized mainly by progressive retinal damage, deafness and genital anomalies.
• Retinitis pigmentosa - mental retardation - deafness: A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness.
• Retinitis pigmentosa, deafness, mental retardation, hypogonadism: A rare genetic disorder characterized by mental retardation, reduced hormone production by the testes or ovaries, deafness and vision problems.
• Retinitis pigmentosa-deafness syndrome: A condition characterized by the association of an eye disease and deafness.
• Retinohepatoendocrinologic syndrome: A rare inherited disorder characterized mainly by eye, liver and endocrine function abnormalities.
• Rett-like syndrome: A very rare syndrome characterized mainly by
• Rhabdomyosarcoma, embryonal: A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor.
• Rhabdomyosarcoma, embryonal 1: A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor. There are two subtypes of this cancer with main difference lying in the genetic origin of the disease. Type 1 is linked to a defect on chromosome 11p15.5.
• Rhabdomyosarcoma, embryonal 2: A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor. There are two subtypes of this cancer with main difference lying in the genetic origin of the disease. Type 1 is linked to a defect on chromosome 11p15.5.
• Rhinovirus-related Cold: A Rhinovirus-related cold is a relatively minor contagious infection of the nose and throat caused by the Rhinovirus. Although colds can cause discomfort they are not considered a serious condition. About a third of all common colds in adults are caused by one of the rhinoviruses.
• Richards-Rundle syndrome: A very rare syndrome characterized mainly by mental retardation, ataxia, deafness and ketoaciduria.
• Richieri-Costa-Silveira-Pereira syndrome: A very rare syndrome characterized mainly by short stature, hand anomaly, clubfoot a cleft palate and various other abnormalities.
• Rieger anomaly - partial lipodystrophy: A very rare disorder characterized by short stature, low birth weight and loss of skin fat. SHORT is an acronym for short stature, hyperextensible joints and/or hernia, ocular depression, Reiger anomaly and teething delay. Additional symptoms are also variably present.
• Rieger syndrome 2: A rare disorder where abnormal development of the front portion of the eye causes glaucoma and impaired vision. Other abnormalities are also present.
• Rigid mask-like face - deafness - polydactyly: A very rare syndrome characterized mainly by deafness, extra digits and a rigid, mask-like face.
• Ringing in ears: The occurrence of a ringing sound in the ears
• Roberts syndrome: A very rare genetic disorder involving a range of physical abnormalities.
• Robinow Sorauf syndrome: A rare disorder characterized by facial and dental abnormalities as well as a partial or complete duplication of the end bone of the big toe.
• Robinson-Miller-Bensimon syndrome: A very rare syndrome characterized by deafness, malformed nails and other abnormalities.
• Rocky Mountain spotted fever: A bacterial disease caused by Rickettsia rickettsii and transmitted by ticks. The condition causes fever and a characteristic rash and may be fatal in severe or untreated cases.
• Rosenberg-Chutorian Syndrome: A very rare disorder involving eye, ear and nerve disorders.
• Rowley syndrome: An inherited syndrome involving the association of hearing loss with branchial fistula.
• Rubella virus antenatal infection: A rare disorder caused by exposure of the fetus to maternal rubella and resulting in a range of abnormalities and fetal death is also possible.
• Rubinstein-Taybi like syndrome: A condition characterized by numerous congenital abnormalities including small head, unusual facial features, short stature, broad thumb and big toe and mental retardation.
• Rudiger syndrome: A rare syndrome characterized by various abnormalities of the feet, hands, face and urogenital system as well as severely retarded growth. Death occurred during early infancy in the recorded cases.
• Ruvalcaba syndrome: A very rare disorder characterized by short stature, skeletal abnormalities, mental retardation and distinctive facial features.
• Ruzicka-Goerz-Anton syndrome: A rare genetic syndrome characterized by rough scaly skin, deafness, mental retardation and skeletal anomalies.
• SCARF syndrome: A rare syndrome characterized mainly by skeletal abnormalities, loose skin, premature fusion of skull bones, ambiguous genitalia, psychomotor retardation and facial abnormalities.
• SCHAD deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
• SCID: Major failure of the immune system, usually genetic.
• Sacral meningocele - conotruncal heart defects: A very rare syndrome characterized by mainly by heart defects involving the heart outflow vessels and valves, tailbone meningocele and abnormal kidney development.
• Saethre-Chotzen syndrome, chromosome 7 p15.3p21.3: A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features of the disorder depending on the exact size and location of the portion of chromosomal material deleted. In this particular form, the chromosomal material deleted is located on chromosome 7 p15.3p21.3.
• Sakati syndrome: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Salivary gland cancer, adult: Cancer of the salivary glands in adults. Salivary glands are glands that produce saliva to facilitate the process of chewing, swallowing and digesting food.
• Sanderson-Fraser syndrome: A very rare syndrome characterized by overlapping fingers, abnormally placed urethral opening in males, protruding eyes and Robin association (small jaw and downward displaced tongue).
• Sanfilippo syndrome type A: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans). This occurs due to there being not enough of the enzyme called heparin sulfatase which is needed to break down the mucopolysacharides. The mucopolysaccharides are then deposited in various tissues.
• Sanfilippo syndrome type B: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to deficiency of an enzyme called N-acetyl-alpha-D-glucosaminidase. Mucopolysaccharide levels build up and are then deposited in various tissues.
• Santos-Mateus-Leal syndrome: A very rare syndrome characterized mainly by extra fingers, deafness and an intestinal disorder called Hirschsprung disease where waste material fails to move effectively through the intestinal system resulting in constipation.
• Say syndrome: A rare inherited syndrome characterized by a variety of abnormalities including transient low blood gammaglobulin levels.
• Say-Barber-Miller syndrome: A very rare syndrome characterized mainly by immune system problems and a small head.
• Say-Meyer syndrome: A very rare syndrome characterized mainly by short stature, developmental delay and trigonocephaly (premature fusion of skull bones giving the forehead a triangular shape).
• Scarlet fever: A complication of infection from strep bacteria such as strep throat.
• Schaap-Taylor-Baraitser syndrome: A very rare syndrome characterized mainly by deafness, cataracts and a deficiency of sex hormone production.
• Schaefer-Stein-Oshman syndrome: A rare disorder where excessive growth and abnormal hardening affects the head and facial bones.
• Schimke, X-linked, mental retardation syndrome: A very rare syndrome characterized by mental retardation, abnormal involuntary movements and retarded growth.
• Schindler disease: Schindler disease is a rare congenital metabolic disorder involving a deficiency of a particular enzyme (alpha-N-acetylgalactosaminidase) which results in a buildup of glycoproteins in the body. The condition originates from a genetic mutation and is an inherited disorder. There are three main types of this condition, each with varying severity. The most severe form usually results in death within a few years of birth whereas the mild form doesn't cause symptoms until after the age of 30. The type and severity of symptoms varies depending on which form of the disease is involved.
• Schindler disease, type 1: Schindler disease is a rare congenital metabolic disorder involving a deficiency of a particular enzyme (alpha-N-acetylgalactosaminidase) which results in a buildup of glycoproteins in the body. The condition originates from a genetic mutation and is an inherited disorder. There are three main types of this condition, each with varying severity. Type 1 is an infantile form and is the most severe form. It usually results in death within a few years of birth.
• Schinzel Giedion Syndrome: A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations.
• Schizophrenia - mental retardation - deafness - retinitis: A very rare syndrome characterized mainly by mental retardation, deafness, retinitis and schizophrenia.
• Schlegelberger-Grote syndrome: A very rare syndrome characterized mainly by deafness, fingerlike thumbs and a blood disorder involving abnormally shaped blood platelets.
• Schwannoma: Solid, benign tumour derived from Schwann cells. Primarily found in the cerebellopontine angle.
• Schwartz-Jampel Syndrome: A rare genetic disorder characterized by myotonia, blepharophimosis and joint limitation.
• Sclerocornea, Syndactyly, ambiguous genitalia: A very rare syndrome characterized mainly by hardening of the corneas, webbed fingers and ambiguous genitalia.
• Sclerosteosis: A rare genetic disorder characterized by syndactyly and thickening and overgrowth of bone.
• Seckel-like syndrome, Majoor-Krakauer type: A very rare syndrome characterized by numerous abnormalities including poor fetal growth, reduced amniotic fluid and heart, brain spleen and kidney anomalies.
• Seckle syndrome: A rare genetic disorder characterized by short stature, microcephaly and a prominent nose.
• Secondary Hypertension: Secondary hypertension is high blood pressure resulting from an underlying cause such as kidney disease. Hypertension is a serious health condition due to the fact that it often causes no symptoms until it is severe.
• Seghers syndrome: A very rare syndrome characterized mainly by spinal abnormalities and abnormal throat development where the throat opening at the back of the mouth is absent.
• Selective IgA Deficiency: Immune deficiency from lacking immunoglobulin A (IgA) antibodies.
• Sensitive hearing: Overly sensitive hearing (hyperacusis) in one or both ears.
• Sensorineural deafness: A condition which is characterized by hearing loss or impairment due to a problem with the cochlear or the acoustic nerve
• Sensorineural hearing loss: Hearing loss due to abnormal functioning or damage to the hearing nerve or the cochlea (inner ear) or the part of the brain that processes sound. The hearing problem may be present at birth or may be acquired through such things as aging, excessive noise or diseases such as meningitis.
• Sensorineural hearing loss, early greying, and essential tremor: A rare syndrome characterized by hearing impairment, premature graying of hair and tremors which start in adulthood.
• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis: A very rare syndrome characterized by progressive ataxia, eye muscle problems and a speech disorder (dysarthria).
• Sensory nerve trauma: Injury or damage to a sensory nerve. Sensory nerves are nerves associated with delivering information from the body to the brain and spinal cord relating to the five senses - vision, hearing, touch, taste and smell. Damage to these nerves can result in heightened, reduced or abnormal sensations. Severity of symptoms vary depending on the location and extent of damage to the affected nerves.
• Senter syndrome: A rare genetic ectodermal disorder characterized by ichthyosiform erythroderma and sensorineural deafness.
• Septo-Optic Dysplasia: A rare birth defect characterized by impaired vision and pituitary deficiency.
• Serpentine fibula - polycystic kidney syndrome: A very rare syndrome characterized mainly by unusual s-shaped calf bone (fibula) as well as the development of numerous cysts in the kidneys.
• Serratia: An infectious disease caused by bacteria from the Serratia genus. The bacteria can cause urinary tract infection, pneumonia, respiratory tract infections, endocarditis, osteomyelitis, septicemia, eye infection, meningitis and wound infections. This type of bacterial infection shows some antibiotic resistance. Symptoms and severity depend on the location and extent of the infection.
• Serratia ear infection: Ear infection caused by bacteria from the Serratia genus. These bacteria are a rare cause of infection.
• Severe combined immunodeficiency, T- B+ due to JAK3 deficiency: A recessively inherited immunodeficiency disorder characterized by a lack of circulating T and Natural Killer Cells and a normal level of B cells. The disorder is caused by a defect on the JAK3 gene. Infants may display symptoms such as pancytopenia, skin rash and abnormal liver function due to a graft-versus-host reaction to the mother's T cells via the placenta. If the condition is not treated, death occurs.
• Shingles: Infectious viral infection occuring years after chickenpox infection.
• Short rib-polydactyly syndrome, Majewski type: A rare genetic disorder which is a lethal form of short-limb dwarfism and is characterized by short stature, disproportionately short limbs, extra fingers and toes and other deformities.
• Short ribs - craniosynostosis - polysyndactyly: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
• Short stature - craniofacial anomalies - genital hypoplasia: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Short stature - microcephaly - seizures - deafness: A very rare syndrome characterized by the association of short stature, small head, seizures and deafness.
• Short stature - monodactylous - ectrodactyly - cleft palate: A very rare syndrome characterized mainly by short stature, missing fingers and a cleft palate.
• Short stature deafness neutrophil dysfunction: A very rare syndrome characterized by short stature, deafness and frequent infections due to abnormal neutrophils.
• Short stature deafness neutrophil dysfunction dysmorphism: A rare condition characterized mainly by the association of short stature, deafnes, neutrophil dysfunction and an unusual facial appearance.
• Shprintzen syndorme: An inherited syndrome of cardiac defects and craniofacial anomalies and various other abnormalities.
• Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
• Shprintzen-Goldberg syndrome: A rare malformations syndrome characterized by abnormalities such as small head, eye problems, poor muscle tone, hearing problems and Hirschsprung megacolon where defective intestinal muscles are unable to move stool efficiently through the intestines.
• Siegler-Brewer-Carey syndrome: A very rare syndrome characterized mainly by cataracts, ear infections, poor absorption by the intestines, respiratory infections and failure to thrive.
• Simpson-Golabi-Behmel syndrome, type 2: A rare genetic disorder characterized by hydrops fetalis and various other severe abnormalities. The condition usually results in death within two months of birth.
• Sinus cancer: Cancer that originates from the mucosal tissue lining the sinus cavities or rarely from the bone itself.
• Sinusitis: Inflammation of the sinus passages (as a symptom)
• Skeletal and Cardiac Malformations with thrombocytopenia: A rare, newly described syndrome characterized by skeletal and heart abnormalities as well as a blood disorder.
• Skeletal dysplasia - orofacial anomalies: A very rare disorder characterized mainly by face, mouth and skeletal abnormalities.
• Skeleto cardiac syndrome with thrombocytopenia: A rare, newly described syndrome characterized by skeletal and heart abnormalities as well as a blood disorder.
• Sketetal dysplasia coarse facies mental retardation: A rare skeletal disorder where the spine and long bones grow and develop abnormally as well as mental deterioration.
• Skull fracture: A fracture of the bones of the skull
• Smelly ear: The occurrence of an ear which has an abnormal odour
• Smith-Lemli-Opitz syndrome, type 2: A rare birth disorder where an enzyme deficiency (7-dehydrocholesterol reductase) prevents cholesterol being metabolized properly. The condition causes a variety of physical abnormalities. Type II is a more severe form of the condition.
• Smith-Martin-Dodd syndrome: A very rare syndrome characterized mainly by small eyes, a hernia and a heart defect (tetralogy of Fallot).
• Solvent abuse: Solvent abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Solvents include nail polish removers, paint thinners, gasoline, typing correction fluid and toxic markers. These solvents can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
• Solvent addiction: Solvent addiction refers to the compulsive need to abuse solvents (e.g. sniffing them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Solvents are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Solvents includes paint thinner, toxic markers, gasoline, cigarette lighter fluid, typing correction fluid and nail polish removers.
• Soto's Syndrome: A rare hereditary disorder characterized by excessive growth during the first few years of life as well as various other mental and physical anomalies.
• Spastic paraparesis deafness: A syndrome that is characterized with spastic paraparesis and deafness.
• Spastic paraplegia nephritis deafness: A very rare syndrome characterized mainly by spastic paraplegia, progressive kidney disease and deafness.
• Sphingolipidosis: A group of diseases involving the abnormal metabolism and storage of a substance called sphingolipid. Symptoms will vary depending on the disease. Examples of diseases from this group include gangliosidosis, Gaucher's disease and Niemann-Pick disease.
• Spinocerebellar ataxia - amyotrophy - deafness: A very rare syndrome characterized by muscle weakness and wasting, ataxia and deafness.
• Spinocerebellar ataxia - dysmorphism: A rare inherited syndrome characterized by ataxia and unusual facial appearance.
• Spinocerebellar ataxia, X-linked, 3: A rare neurological disorder involving mainly ataxia and deafness which starts during infancy and progresses quite rapidly to result in childhood death.
• Spinocerebellar ataxia, autosomal recessive 3: A rare neurological disorder caused by a genetic defect (chromosome 6p21, recessive) and resulting in ataxia and loss of vision and hearing.
• Split hand split foot mandibular hypoplasia: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
• Spondyloepimetaphyseal dysplasia with multiple dislocations: A very rare syndrome characterized by abnormal bone growth and multiple joint dislocations.
• Spondylohypoplasia arthrogryposis popliteal pterygium: A very rare inherited syndrome characterized by webbing at the back of the knees, spinal defects and various other skeletal abnormalities.
• Spondylohypoplasia, arthrogryposis and popliteal pterygium: A very rare inherited syndrome characterized by webbing at the back of the knees, spinal defects and various other skeletal abnormalities.
• Spondylometaphyseal dysplasia with combined immunodeficiency: A rare syndrome characterized by skeletal abnormalities as well as a poor immune system.
• Steinfeld syndrome: A very rare syndrome characterized by kidney abnormalities, single brain lobe and a heart defect.
• Stickler Syndrome: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities.
• Stickler Syndrome, type I: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 1 is caused by a genetic defect on chromosome 12q13.11-q13.2
• Stickler Syndrome, type II: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 2 is caused by a genetic defect on chromosome 1p21
• Stickler Syndrome, type III: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and ear abnormalities. Type 3 is caused by a genetic defect on chromosome 6q21.3. Type 3 doesn't involve any of the eye problems that occur in type 1 and 2.
• Stoll Levy Francort Syndrome: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
• Stoll-Levy-Fancfort syndrome: A rare syndrome characterized mainly by deafness, missing fingers, abnormal heart rhythm and missing bones in limbs.
• Stratton-Parker syndrome: A very rare syndrome characterized by short stature, heart positioned on the wrong side of the chest (dextrocardia) and a bone development anomaly.
• Streptomycin - Teratogenic Agent: There is evidence to indicate that exposure to Streptomycin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Stress-Induced Hypertension: Stress-induced hypertension is high blood pressure associated with physical or emotional stress. Chronic stress and associated high blood pressure can cause problems and treatment with anti-anxiety medication is usually prescribed.
• Stroke symptoms: Brain-related symptoms of bleeding or blockage.
• Stuve-Wiedemann dysplasia: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
• Stuve-Wiedemann syndrome: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
• Sulfatidosis juvenile, Austin type: A very rare metabolic disorder where all the sulfatase enzymes are impaired resulting in a variety of physical and developmental abnormalities.
• Superficial siderosis of the central nervous system: A rare disorder where hemosiderin (free iron) is deposited in parts of the central nervous system (brain and spinal cord tissue). It is often caused by repeated periods of bleeding in the brain (subarachnoid space).
• Superior vena cava syndrome: A condition caused by compression or obstruction to the normal circulation of the superior vena cava which carries deoxygenated blood from the body tissues back to the heart.
• Supraglottic laryngeal cancer: Cancer that arises in the tissue above the vocal cords.
• Susac syndrome: A very rare characterized by poor blood supply resulting in damage to chochlear, retinal and brain tissue. It is results form inflammation of small blood vessels. Recurring attacks occur over a couple a couple of years and are months apart. The condition resolves itself eventually and the severity of persisting symptoms is variable.
• Syndactyly, Cenani Lenz type: A rare birth defect syndrome characterized by various hand bone abnormalities.
• Syndromic Dystelephalangy: A rare syndrome characterized by bowed end bones of digits, facial anomalies and various other symptoms.
• Synovitis granulomatous with uveitis and cranial neuropathies: A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions.
• Syphilis: A sexually transmitted disease caused by a bacteria (Treponema pallidum). The condition is often asymptomatic in the early stages but one or more sores may be present in the early stages. Untreated syphilis usually results in remission of visible symptoms but further severe damage may occur to internal organs and other body tissues which can result in death.
• TAU syndrome: A very rare syndrome characterized mainly by reduced blood platelet level and absent ulna bone (forearm bone).
• TMJ Syndrome: Disorder of the jaw joint
• TORCH Syndrome: Infection of a fetus by any of a group of infectious agents which have been transmitted from the mother through the placenta. The infections include toxoplasmosis, rubella, cytomegalovirus, herpes virus, hepatitis and syphilis. The severity and nature of symptoms is determined by the type of infection.
• Tang Hsi Ryu syndrome: A rare syndrome characterized by enlarged liver and spleen, increased pigmentation and abnormal peripheral nerve functioning.
• Tay Sachs: Rare genetic disease leading to fatty deposits in the brain.
• Tay Sachs Disease: A condition which is causes GM2 gangliosidosis
• Tay-Sachs disease - juvenile onset: A rare inherited biochemical disorder involving the deficiency of an enzyme called Hexosaminidase A. There are two forms of the disease - juvenile and adult onset.
• Teeth grinding: Grinding teeth when asleep
• Tegison - Teratogenic Agent: There is evidence to indicate that exposure to Tegison (a drug used to treat psoriasis) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Telfer-Sugar-Jaeger syndrome: A rare genetic disorder characterized by patches of skin depigmentation as well as neurological problems such as incoordination, deafness and mental retardation.
• Tempormandibular joint pain: Temporomandibular joint pain occurs as a result of problems with the jaw, jaw joint, and surrounding facial muscles that control chewing and moving the jaw.
• Temporo-mandibular ankylosis: A disorder involving stiffness or fusion of the jaw joint which affects the ability of the jaw to open and close normally. The condition may occur congenitally or may be acquired through such things as trauma.
• Temtamy preaxial brachydactyly syndrome: A rare syndrome characterized by mental retardation, deafness, retarded growth, finger abnormalities and various other anomalies.
• Temtamy syndrome: A rare disorder characterized by a brain abnormality, unusual facial appearance and eye coloboma.
• Tetra-Amelia, Autosomal Recessive: A recessively inherited malformation syndrome characterized by absence of all four limbs. Various other malformations were also present.
• Tetraamelia with pulmonary hypoplasia: A very rare syndrome characterized mainly by the absence of arms and legs and abnormal lung development.
• Thalidomide - Teratogenic Agent: There is evidence to indicate that exposure to Thalidomide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Thiamine responsive megaloblastic anemia syndrome: A rare genetic disorder characterized by megaloblastic anemia, hearing loss and diabetes. The condition is caused by a deficiency of a thiamine (vitamin B1) transporter protein which means that the body is unable to effectively utilize thiamine from the diet.
• Thiele syndrome: A very rare syndrome characterized mainly by mental retardation, unusual facial appearance and a small head.
• Thies Reis syndrome: A rare condition characterized by hearing loss caused by fixation of stapes (ear bone which causes conductive deafness if it becomes fixed and immovable). It can occur as a result of various bone diseases or even chronic ear infections.
• Thin ribs - tubular bones - dysmorphism: A very rare syndrome characterized mainly by thin ribs, narrow-shafted long bones and a large head.
• Thompson-Baraitser syndrome: A very rare syndrome characterized mainly by liver fibrosis, kidney cysts and mental retardation.
• Thong-Douglas-Ferrante syndrome: A very rare syndrome characterized mainly by short stature, deafness and a blood abnormality.
• Thoracic dysplasia - hydrocephalus syndrome: A very rare syndrome characterized by abnormal chest development and excess fluid inside the skull.
• Thrombocytopenia - Robin sequence: A very rare syndrome characterized by a variety of abnormalities such as short stature, unusual hair, reduced blood platelets, heart defects and tooth enamel anomaly.
• Thymic-Renal-Anal-Lung dysplasia: A rare syndrome characterized by abnormalities involving the lungs, anus, kidneys and thymus.
• Thyrocerebral-retinal syndrome: A very rare syndrome observed in a brother and sister and characterized by thyroid, kidney and neurological disease.
• Thyroid cancer, Hurthle cell: A rare form of cancer that originates in the thyroid gland. This cancer is characterized by the abnormal presence of Hurthle cells which may signify benign or malignant thyroid cancer. The cancer usually responds well to treatment if detected in the earlier stages.
• Timothy syndrome: A rare syndrome characterized by webbed fingers and a heart defect. Most affected individuals die during early childhood or infancy.
• Tinnitus: A continual ringing sensation occurring in one or both ears
• Tongue Cancer: The majority of tongue cancers are squamous cell carcinomas. These arise from the lining that covers the muscles of the tongue
• Tonsilitis: Inflammation of the tonsils in the throat.
• Toriello syndrome: A rare syndrome characterized by brachial arch defects and other abnormalities such as short stature, mental retardation and small head.
• Townes-Brocks Syndrome: A rare condition characterized by anal, hand, foot and ear abnormalities.
• Toxic mushrooms - Renal toxic (orelline): Some mushrooms (Amanita smithiana) contain chemicals (allenic norleucine, chlorocrotyglycine) which can cause kidney damage.
• Toxoplasmosis: Infection often caught from cats and their feces.
• Treft-Sanborn-Carey syndrome: A rare syndrome characterized by a variety of eye problems, deafness and muscle disease.
• Tretinoin - Teratogenic Agent: There is evidence to indicate that exposure to Tretinoin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Trichinosis: Worm infection usually caught from pigs
• Tricho-hepato-enteric syndrome: A very rare syndrome characterized mainly by hair and liver abnormalities as well as severe diarrhea that usually starts in early infancy and can lead to death.
• Trichorhinophalangeal syndrome type 1: A rare genetic disorder characterized by bulbous nose, sparse hair and coning of epiphyses.
• Trichorhinophalangeal syndrome type 2: A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy.
• Trichorhinophalangeal syndrome type 3: A rare inherited disorder involving hair, face, teeth, and bone abnormalities. The type and severity of symptoms is variable.
• Trichorrhexis nodosa syndrome: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Trichothiodystrophy, type C: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Trichothiodystrophy-neurocutaneous Syndrome: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Trichothiodystrophy-neurotrichocutaneous Syndrome of Pollitt: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Triglyceride storage disease with impaired long-chain fatty acid oxidation: A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities.
• Trigonocephaly - ptosis - coloboma: A rare syndrome characterized by droopy eyelids, brain malformation, a triangular shaped prominent forehead and an eye abnormality.
• Triploid syndrome: A complete extra set of chromosomes.
• Trisomy 10 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 10 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 13 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 13 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect. There appears to be a direct correlation between the number of cells in the body containing the chromosomal defect and severity of symptoms and survival.
• Trisomy 14 Mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
• Trisomy 14 Mosaicism Syndrome: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary considerably between patients depending on how many of the body's cells have the extra genetic material.
• Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Edwards syndrome is more severe than the more common Down syndrome. Edwards syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
• Trisomy 18 mosaicism: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18 in only some of the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved.
• Trisomy 19 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 19 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 21 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 1 in some of the body's cells. The presence of trisomy 20 in all cells causes Down's syndrome and thus the presence in fewer body cells results in conditions that are similar to Down's but tend to be milder.
• Trisomy 22 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 22 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 6: A rare chromosomal disorder involving the duplication of chromosome 6 which results in variable symptoms including mental retardation, retarded growth, facial anomalies and various other abnormalities. Full Trisomy 6 is results in spontaneous abortion whereas various degrees of Trisomy 6q can result in syndromes of variable severity depending on the size of the duplication.
• Trisomy 6 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 6 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 8 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Tunglang-Savage-Bellman syndrome: A very rare syndrome characterized mainly by hearing loss and abnormal salivary gland function.
• Type 10 17b-hydroxysteroid dehydrogenase deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
• Unusual facies, arachnodactyly, hypogenitalism and failure to thrive: A very rare syndrome characterized by an unusual facial appearance, small genitals, failure to thrive and long, thin fingers.
• Unusual facies, osteosarcoma and malformation syndrome: A rare syndrome characterized mainly by an unusual facial appearance, osteosarcoma, hearing problems and other variable abnormalities.
• Upper limb defect eye and ear abnormalities: A rare disorder characterized by underdeveloped thumb and ear, deafness and an eye defect.
• Upper respiratory infection: The occurrence of an infection of the upper respiratory tract
• Upton Young syndrome: A syndrome which is characterised by the association of multiple symptoms including mental retardation and multiple nevi
• Urioste Martinez-Frias syndrome: A syndrome characterised by multiple abnormalities
• Urogenital adysplasia: A condition which is characterised by bilateral renal agenesis
• Urogenital adysplasia, hereditary: A condition which is characterised by bilateral renal agenesis
• Urophathy distal obstructive polydactyly: A rare syndrome characterized by extra digits and an obstructive urinary system disorder.
• Usher Syndrome: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss.
• Usher Syndrome Type 1: A rare inherited disorder characterized by sensorineural deafness at birth or soon after and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood.
• Usher Syndrome Type 3: A rare inherited disorder where children are born with normal hearing and vision which progressively deteriorates at a variable rate.
• Usher syndrome, type 1B: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
• Usher syndrome, type 1C: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 11p15.1.
• Usher syndrome, type 1D: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 10q21-q22.
• Usher syndrome, type 1E: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 21q21.
• Usher syndrome, type 1F: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 10q21-q22.
• Usher syndrome, type 2A: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
• Usher syndrome, type 2B: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
• Usher syndrome, type 2C: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
• Valproic Acid - Teratogenic Agent: There is evidence to indicate that exposure to Valproic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Valproic acid antenatal infection: A condition which usually occurs in a fetus due to the mother taking valproic acid for epileptic seizures
• Van Buchem disease type 2: A disease which is characterised by early onset osteoporosis
• Vasotec - Teratogenic Agent: There is evidence to indicate that exposure to Vasotec (an ACE inhibitor) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Vasquez Hurst Sotos syndrome: A rare genetic disorder characterized by underdeveloped genitals, obesity, mental retardation and skeletal abnormalities.
• Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
• Verloes Gillerot Fryns syndrome: A syndrome characterised by multiple congenital abnormalities and mental retardation.
• Verloes-David Syndrome: An inherited condition characterised by shortness of stature and multiple skeletal abnormalities.
• Verloove Vanhorick Brubakk syndrome: A syndrome that is characterised by the occurrence of cleft limbs and heart malformations.
• Vestibulocochlear Nerve Diseases: Diseases that affect the vestibular and/or cochlear nerves of the hearing system. Such diseases include cochlear neuritis, acoustic neuroma, and vestibular neuritis. Symptoms depend on which of the nerves are involved.
• Vestibulocochlear dysfunction progressive familial: A condition which is characterised by vestibulocochlear dysfunction that occurs in a familial pattern
• Vestibulocochlear dysfunction progressive familial type: An inherited disorder involving progressive hearing loss due to inner ear abnormalities.
• Vibrio infection - Vibrio alginolyticus: An infectious disease caused by a bacteria called Vibrio alginolyticus. This bacterium tends to cause ear and wound infections.
• Viljone Kallis Voges syndrome: A syndrome characterised by microcephaly, short statures, brachydactyly, lowe set ears, prominent nose and mental retardation
• Viral hemorrhagic fever: A group of diseases caused by viruses which cause damage to blood vessels and result in hemorrhages and fever. The hemorrhaging does not always cause serious bleeding. The specific symptoms may vary depending on which particular virus is involved.
• Vogt-Koyanagi-Harada Syndrome: A rare condition characterized by poliosis and hair, skin, eye and ear abnormalities as well as retinal detachment and neurological involvement.
• Vohwinkel syndrome: A rare condition where tight bands of thickened skin form around the base of fingers and toes and generally leads to self-amputation of the digit. Hearing loss is also associated with the condition.
• Von voss Cherstvoy syndrome: An early congenital condition that is characterised by multiple congenital anomalies.
• Waaler Aarskog syndrome: A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly).
• Waardenburg syndrome: A rare genetic disorder with a large variation in range and severity of symptoms but generally involves hearing loss, characteristic facial abnormalities and changes in skin, hair and eye pigmentation.
• Waardenburg syndrome type 2: A hereditary, autosomal dominant disorder.
• Waardenburg syndrome type 2A: A hereditary, autosomal dominant disorder.
• Waardenburg syndrome type 2B: A hereditary, autosomal dominant disorder.
• Waardenburg syndrome type IIA: A rare genetic disorder characterized by partial albinism and have a greater hearing impairment than Waardenburg syndrome type I. Type 2A is distinguished from other forms of type 2 in the origin of the genetic defect - MITF gene on chromosome 3p14.1-p12.3.
• Waardenburg syndrome type IIB: A rare genetic disorder characterized by partial albinism and have a greater hearing impairment than Waardenburg syndrome type I. Type 2B is distinguished from other forms of type 2 in the origin of the genetic defect - chromosome 1p.
• Waardenburg syndrome type IIC: A rare genetic disorder characterized by partial albinism and have a greater hearing impairment than Waardenburg syndrome type I. Type 2C is distinguished from other forms of type 2 in the origin of the genetic defect - chromosome 8p23.
• Waardenburg syndrome type IID: A rare genetic disorder characterized by partial albinism and have a greater hearing impairment than Waardenburg syndrome type I. Type 2D is distinguished from other forms of type 2 in the origin of the genetic defect - chromosome 8q11.
• Waardenburg syndrome type IIE: A rare genetic disorder characterized by partial albinism and have a greater hearing impairment than Waardenburg syndrome type I. Type 2E is distinguished from other forms of type 2 in the origin of the genetic defect - SOX10 gene on chromosome 22q13.
• Waardenburg syndrome types I: A rare genetic disorder characterized by lateral displacement of medial canthi, partial albinism and deafness.
• Waardenburg syndrome, type 3: A rare syndrome involving deafness, pigmentation and musculoskeletal abnormalities
• Waardenburg syndrome, type 4: A rare inherited eye disorder characterized by loss of central vision as well as symptoms of Hirschsprung disease which is an intestinal disorder that prevents waste material from moving effectively through the digestive system.
• Waardenburg type 1: A hereditary, autosomal dominant disorder.
• Waardenburg type pierpont: A rare disorder characterized mainly by a cleft palate and cleft lip as well as hearing problems and pigmentation anomalies. The combination of symptoms may vary somewhat with the cleft lip and palate being constant features.
• Wagner-Stickler Syndrome: There is confusion about whether Wagner and Stickler disease are actually extremes of the same disorder and thus the term Wagner-Stickler syndrome is sometimes used. Both conditions involve varying degrees of degeneration of eye structures with Stickler syndrome also involving other variable symptoms such as deafness and facial, oral and skeletal abnormalities.
• Warfarin syndrome: Various physical and other abnormalities that can result from the use of the drug Warfarin during the first trimester of pregnancy.
• Warthin's tumor: A tumor of the parotid salivary glands.
• Watson syndrome: A rare syndrome characterized by short stature, reduced intelligence, café au lait spots and narrowing of pulmonary valves.
• Weaver Johnson syndrome: A syndrome that is characterised by craniosynostosis and cleft lip
• Weaver Syndrome: A syndrome that is considered a variant of the Marshall-Smith syndrome
• Weaver like syndrome: A rare genetic syndrome characterized by a large mouth, unusual facial features, skeletal anomalies and other abnormalities. The disorder is similar to another genetic disorder called Weaver syndrome but tends to involve endocrinologic abnormalities as well.
• Wegener's granulomatosis: A rare disease involving blood vessel inflammation which can affect the blood flow to various tissues and organs and hence cause damage. The respiratory system and the kidneys are the main systems affected.
• Wells Jankovic syndrome: A syndrome that is characterised with spastic paraparesis and deafness
• Wheezing: Breathing difficulty with specific wheezing sound.
• Whiplash Injuries: An injury to the neck when the neck is rapidly forced backward and then forwards or vice versa. It most commonly occurs in vehicle accidents when the vehicle is stopped abruptly or pushed forwards suddenly.
• Wiedemann Oldigs Oppermann syndrome: A rare syndrome characterized mainly by excessive hair growth, mental retardation and skeletal abnormalities.
• Wiedemann-Tolksdorf syndrome: A syndrome involving mental retardation, speech problems, rapid growth, unusual face and finger and toe anomalies.
• Wildervanck syndrome: A rare birth disorder involving hearing loss, fusion of vertebrae and eye movement abnormalities/
• Wildervanck syndrome 2: A syndrome characterized by mental retardation from birth, short stature, eye problems and various other abnormalities.
• Wildervanck syndrome 3: An inherited syndrome characterized by a hole in the skin near the ears, malformed ears and hearing loss.
• Wilkes Stevenson syndrome: A syndrome that is characterised by multiple congenital abnormalities
• Willems De vries syndrome: A syndrome that is characterised by prominent short limbs, subluxed knees and a cleft palate
• Williams Syndrome: A syndrome characterised by mental retardation, facial abnormalities and emotional instability
• Wiskott-Aldrich Syndrome: An inherited immune system disorder that affects only males and is characterized by recurring infections, eczema and reduced level of blood platelets (thrombocytopenia).
• Wittwer sydnrome: A syndrome that is characterised by the occurrence of growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and the absence of speech
• Wolf-Hirschorn syndrome: A syndrome characterised by the partial deletion of the short arm of chromosome 4
• Wolfram Syndrome 2: Wolfram Syndrome is a condition characterized by the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Type 2 is the result of a genetic defect and is similar to type 1 but there is no diabetes insipidus and patients tend to develop gastrointestinal problems.
• Wolfram Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
• Wolfram's disease: A condition that is inherited and consists of multiple symptoms
• Woodhouse Sakati syndrome: A condition which consists of numerous symptoms such as diabetes, hypogonadism, deafness and mental retardation
• Worster Drought syndrome: A mild form of tetraplegic cerebral palsy
• Wright dick syndrome: A rare, dominantly inherited syndrome characterized mainly by sensory nerve impairment and dementia.
• Wyburn Mason's syndrome: A rare genetic condition mainly involving enlarged brain blood vessels and skin and eye abnormalities.
• X chromosome, monosomy Xp22 pter: A condition that is characterised by the occurrence of only one X chromosome in the genotype of an individual
• X chromosome, monosomy Xq28: A condition that is characterised by the occurrence of only one X chromosome in the genotype of an individual
• X-Linked Agammaglobulinemia: Immune deficiency from lack of antibodies.
• X-linked alpha thalassemia mental retardation syndrome (ATR-X): An x-linked condition that features mental retardation, dysmorphic features, and alpha thalassemia
• X-linked mental retardation - hypotonia: A very rare inherited disorder characterized primarily by mental retardation. Initial symptoms of muscle weakness gives way to spasticity and contractures.
• Xeroderma pigmentosum: A rare pigmentary disease that is caused by an enzyme deficiency
• Xeroderma pigmentosum, type 1: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation - type 1 has the lowest level of repair and the most neurological complications.
• Xeroderma pigmentosum, type 2: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type B is often associated with signs of Cockayne syndrome.
• Xeroderma pigmentosum, type 4: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type D involves neurological symptoms.
• Xeroderma pigmentosum, type 7: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type G usually involves severe neurological symptoms.
• Yemenite deaf-blind hypopigmentation syndrome: A condition which is characterised by the association of several symptoms which affect ones hearing and vision
• Young Simpson syndrome: A condition that is characterised by mainly mental retardation and physical signs of hypothyroidism
• Yunis Varon syndrome: A multisystem genetic disease that affects the skeletal system in particular
• Zadik Barak Levin syndrome: A condition that affects the endocrine system as well as some facial characteristics
• Zellweger Syndrome: Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form.
• Zimmerman-Laband syndrome: A rare inherited condition characterized by fibrosis of the gums and ear, nose, nail and finger abnormalities.
• Ziprkowski-Adam syndrome: A rare syndrome characterized by deafness from birth and total albinism.
• Ziprkowski-Margolis syndrome: A congenital disorder characterized by lack of skin pigmentation with patches of pigmented skin (piebaldism), different colored eyes and deafness.
• Zunich neuroectodermal syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.
• Zunich-Kaye syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.

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