Glossary for Failure to thrive

Medical terms related to Failure to thrive or mentioned in this section include:

• $14q+ syndrome$: A rare chromosomal disorder involving duplication of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
• $18-Hydroxylase deficiency$: A rare genetic, metabolic defect where a deficiency of the enzyme 18-Hydroxylase which results in a reduced amount of aldosterone and salt wasting.
• $18p minus syndrome$: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
• $1q deletion$: 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.
• $2q deletion$: 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.
• $3-Hydroxyisobutyric aciduria$: A rare inborn metabolic disorder which causes brain and facial anomalies, seizures and growth problems.
• $3-M Syndrome$: A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected.
• $3-methylglutaconic aciduria, type 4$: 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.
• $3q deletion$: 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.
• $4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency$: A very rare metabolic disorder where a deficiency of a particular enzyme results in the urinary excretion of a chemical called hawkinsin. Symptoms start once the infant is weaned off breast milk.
• $49,XXXXX syndrome$: A rare chromosomal disorder that affects only females and involves body cells having five copies of the X chromosome instead of the normal two.
• $4p16.3 deletion$: A rare genetic disorder where a portion of chromosome 4 is deleted at a location called 16.3. The condition is characterized by malformations in most parts of the body as the deletion affects growth and development of the fetus.
• ACAD8 deficiency: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
• AIDS dysmorphic syndrome: A rare syndrome involving craniofacial anomalies and developmental delay that occurs in infants infected with AIDS during the fetal stage.
• Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
• Aase Syndrome: A genetic condition which results in anaemia and some skeletal and joint deformities
• Acanthocytosis: A rare disorder where most of the red blood cells are abnormal with spiny projections due to lipid abnormalities. The blood abnormality is seen in conditions such as abetalipoproteinemia, severe liver disease and severe malnutrition. Symptoms and prognosis depend on the underlying disorder.
• Acidemia, methylmalonic: An inborn error of metabolism where amino acids in the body aren't metabolized properly resulting in high levels of the acid throughout the body.
• Acidosis: The accumulation of hydrogen ions or the depletion of the alkaline reserve in the body.
• Acrodermatitis Enteropathica: A rare, chronic condition that occurs in infants and involves autosomal zinc malabsorption. Signs include blisters on the skin and mucous membranes, alopecia, diarrhea and failure to thrive. The condition may be fatal if untreated.
• Acyl-CoA dehydrogenase, short chain, deficiency of: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy. Symptoms are exacerbated by fasting or acute illness. The severity of symptoms is variable with some patients remaining virtually asymptomatic their whole life while other suffer symptoms from infancy.
• Adenylosuccinate lyase deficiency: A rare inherited disorder characterized by a deficiency of the enzyme called adenlyosuccinate lyase which generally results in psychomotor retardation and autistic behavior.
• Adrenal hyperplasia, congenital type 3: A group of disorders that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The severity of the condition is variable depending on the degree of deficiency.
• Adrenomyodystrophy: A rare genetic disorder characterized by primary adrenal insufficiency, dystrophic myopathy, severe psychomotor retardation and an overly-distended bladder which can cause death.
• Adult low grade infiltrative supratentorial Astrocytoma: A type of brain cancer that occurs in the supratentorial region of the brain of adults and is relatively non-aggressive.
• Agammaglobulinemia, alymphocytotic type: A rare inherited immunodeficiency disorder involving a lack of T and B lymphocytes which makes the patient susceptible to bacterial and viral infections.
• Alagille syndrome: A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver.
• 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.
• Albright's hereditary osteodystrophy: A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate.
• Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
• Alpha thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. Alpha thalassemia involves defects in one or more of the four genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
• Alpha thalassemia - Hemoglobin H disease: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. Hemoglobin H disease involves defects in three of the four genes required to make each ? protein chain. The main symptom is moderate to severe anemia.
• Alpha thalassemia major: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. Alpha thalassemia major is very rare involves defects in all of the four genes required to make each ? protein chain. The condition leads to infant death before or soon after birth.
• Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
• Alsing syndrome: A rare syndrome characterized mainly by kidney problems, skeletal abnormalities and a hole in the coloboma of the eye.
• Amyloidosis, familial cutaneous: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. The familial cutaneous form is characterized by brown skin pigmentation as well as systemic symptoms such as failure to thrive, developmental delay, gastrointestinal problems and pneumonia.
• Andersen disease: An rare inborn error of metabolism involving glycogen storage and characterized by cirrhosis and sometimes liver failure. Lack of the amyl-transglucosidase enzyme and abnormal glycogen causes the condition.
• Anemia, Neonatal: Insufficient red blood cells that can carry oxygen around the body. It is common in premature births or can occur as a result of blood loss before, during or just after the birth.
• Angiofollicular lymph hyperplasia: A rare disorder of the lymph system characterized by the development of benign tumors in lymph tissue anywhere in the body.
• Anorexia Nervosa: A disorder where a distorted sense of body image leads to self-starvation to the point of death in some cases.
• Ansell-Bywaters-Elderking syndrome: A rare familial syndrome characterized mainly by mental retardation, rash, eye inflammation and joint disease.
• Apparent Mineralocorticoid Excess, type 2: A form of inherited high blood pressure that starts during early childhood. The condition is caused by a genetic defect which results in an inborn error of metabolism of peripheral cortisol. Type 2 causes similar symptoms to type 1 but the urinary steroid levels are different.
• Apparent mineralocorticoid excess: A form of inherited high blood pressure that starts during early childhood. The condition results from a genetic defect which causes impaired metabolism of cortisol.
• Arginase deficiency: A very rare urea cycle disorder caused by a deficiency of the enzyme (arginase) needed to convert ammonia to the urea which can then be removed in the urine. The condition leads to excess build-up of ammonia in the body which is toxic to the nervous system.
• Arterial occlusive disease, progressive - hypertension - heart defects - bone fragility - brachysyndactyly: A rare syndrome characterized by narrowing or blockage of a number of arteries (in the kidneys, abdomen, brain and heart) as well as fragile bones, heart defects and finger abnormalities. Fractures and high blood pressure often start during the first years of life.
• Ascariasis: Large intestinal roundworm from 6 to 13 inches.
• Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
• Asthma: A condition which is characterized by recurrent attacks of paroxysmal dyspnoea
• Athabaskan severe combined immunodeficiency: A severe immunodeficiency disorder found in Navajo and Apache populations.
• Atrioventricular septal defect: A congenital heart defect where the valves and walls between the upper and lower heart chambers (atrial and ventricular septa and the atrioventricular valves) don't develop properly. Symptoms are determined by the severity of the malformation.
• Autoimmune enteropathy: A very rare condition that occurs when the body's own immune system attacks the intestinal wall and affect the way it absorbs food.
• Autoimmune enteropathy, type 1: A rare condition involving autoimmune problems which can variably manifest as enteropathy (diarrhea), hemolytic anemia, and endocrine gland diseases such as diabetes mellitus and thyroid disease. Resistance to viral infections is poor. The condition is life-threatening, especially during infancy and early childhood. As the condition is inherited in a X-linked manner, males tend to suffer severe symptoms whereas females suffer few if any symptoms as they are a carrier of the condition.
• Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss: A rare syndrome characterized mainly by heart defects, hearing impairment and a congenital eye disorder called Axenfeld-Rieger anomaly.
• 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.
• Baber's syndrome: A very rare syndrome characterized by the association of congenital liver cirrhosis with Fanconi syndrome.
• Baller-Gerold Syndrome: A rare syndrome characterized by premature fusion of skull bones and radial defects. Variable other abnormalities may be present.
• Bardet-Biedl Syndrome: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities.
• Bare lymphocyte syndrome: An inherited immunodeficiency disorder characterized by T- and B-cell dysfunction (these cells are essential for helping fight infection). Lack of treatment can result in infant death from infection.
• Barth Syndrome: 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 2 is characterized by its affects on the heart.
• Bartter Syndrome: A rare genetic disorder of kidney metabolism characterized by reduced blood acidity and low potassium levels.
• Bartters syndrome, antenatal , type 2: A rare genetic kidney disorder that causes hypokalemia. A defect in the ROMK gene impairs the ATP-regulated potassium channel functioning and leads to electrolyte imbalance.
• Behavioral symptoms: Symptoms of personal behavior.
• Beta Thalassemia intermedia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. There are two subtypes of the disorder (? and ?) depending on what portion of the hemoglobin is abnormally synthesized. Beta Thalassemia intermedia involves defects in both of the two genes required to make each ? protein chain. The condition causes varying degrees of moderate anemia.
• Beta thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. Beta thalassemia involves defects in one or more of the two genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
• Bile acid synthesis defect, congenital, 2: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.
• Bile acid synthesis defect, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
• Bile acid synthesis defects: A defect which prevents the body from making bile acid which results in progressive liver disease.
• Bile acid synthesis defects, congenital, 2: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.
• Bile acid synthesis defects, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
• Bile duct cysts: The formation of a cyst (dilation or swelling) in the bile duct which can obstruct the flow of bile and result in jaundice.
• Biliary Atresia: A rare condition that can affect newborns where the bile duct that carries the bile from the liver to the small intestine is blocked or missing.
• Biliary atresia, intrahepatic, non syndromic form: Congenital obstruction of the passages in the liver that carry bile. The nonsyndromic form is not associated with any other abnormalities.
• Biliary atresia, intrahepatic, syndromic form: Congenital obstruction of the passages in the liver that carry bile. The syndromic form is associated with other congenital abnormalities such as heart and visceral defects.
• Bland-Garland-White syndrome: A rare birth malformation where the left coronary artery comes out of the pulmonary artery instead of the aorta. Usually, infants are usually healthy for a few months after which they start having symptoms of heart problems. Occasionally, patients may be asymptomatic even into adulthood but usually death occurs during infancy.
• Bland-White -Garland syndrome: A heart disorder where the left coronary artery comes out of the pulmonary artery.
• Blind loop syndrome: A rare intestinal defect where there is a small loop in the intestines that allow digesting material to enter but not exit. The symptoms are variable depending on the size and location of the pouch.
• Bloom Syndrome: A rare genetic inherited genetic disorder which mainly affects Ashkenazic Jewish people and is characterized by short stature, malar hypoplasia, and a telangiectatic erythema of the face.
• Blue Diaper Syndrome: A rare metabolic disorder characterized by vision problems, bluish urine, fever and digestive anomalies.
• Body symptoms: Symptoms affecting the entire body features.
• Boichis syndrome: A rare syndrome involving nephronophthisis (progressive destruction of kidney tissue) from birth which leads to kidney failure and liver fibrosis.
• Borjeson Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
• Bowen-Conradi Syndrome: A very rare inherited disorder characterized by low birth weight, small head, facial anomalies and failure to thrive.
• Branchio-Oculo-Facial Syndrome: A rare genetic disorder characterized by branchial defects, lacrimal duct obstruction and pseudocleft of upper lip.
• Bronchiectasis: Chronic bronchiole dilation from secretions and blockages.
• Bulimia nervosa: Eating disorder with binging (overeating) and purging (vomiting).
• C Syndrome: A rare inherited disorder characterized by a triangular-shaped head, facial anomalies, joint contractures and loose skin.
• C-like syndrome: A rare disorder involving poor fetal growth, limb and facial defects and severe developmental delay.
• CAMFAK syndrome: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature.
• 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.
• CML-Like Syndrome, Familial: A very rare condition characterized by symptom similar to myelocytic leukemia that develop during infancy. The condition can result in death during the first years of life.
• 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.
• Camptomelic dysplasia I: A rare condition characterized by dwarfism due to bowed shin and thigh bones.
• Camptomelic dysplasia II: A rare condition characterized by dwarfism due to bowed shin and thigh bones which tend to be shorter and wider than normal.
• Canavan disease: Rare genetic degenerative brain disease in infants.
• Cancer: Abnormal overgrowth of body cells.
• Cantu syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
• Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing.
• Carnitine transporter deficiency: An inherited deficiency of carnitine caused by the impaired ability of the carnitine transporter protein to carry the carnitine to where it is needed. Instead the carnitine is excreted through the urine. Fasting or illness can trigger a severe attack.
• Carnosinase deficiency: A very rare inherited metabolic disorder characterized by severe neurological abnormalities such as mental retardation and myoclonic seizures.
• Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
• Cartilage Hair Hypoplasia: An inherited disorder characterized by short-limb dwarfism as well as hair that is short, fine, brittle and often light colored.
• Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.
• Catel-Manzke Syndrome: A rare genetic disorder characterized by a small jaw, cleft palate and an extra bone at the base of the pointer finger.
• Celiac Disease: Digestive intolerance to gluten in the diet.
• 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.
• Child abuse: Physical, sexual, emotional abuse or neglect of child.
• Cholestasis: A condition where bile formation or flow is reduced.
• Cholestasis, progressive familial intrahepatic 1: A rare inherited condition where bile is unable to drain from the liver where it builds up and causes progressive liver damage.
• Cholestatic jaundice -renal tubular insufficiency: A very rare syndrome characterized by liver and kidney problems.
• Chondrodysplasia Punctata, Rhizomelic type: A rare genetic disorder characterized by slow growth, mental deficiency, characteristic facial features and skeletal deformities particularly of the limbs, spine and pelvis.
• Chondrodysplasia punctata, Sheffield type: A rare genetic disorder characterized by bone anomalies, failure to thrive and unusual facial features. The bone anomalies consists of abnormal calcification in various parts of the body such as the feet, toes, ankle, tailbone, vertebrae, top of thigh, upper arm and laryngeal cartilage. The calcification abnormalities tend to resolve after within the first 5 years.
• Chondrodysplasia punctata, brachytelephalangic: A rare disorder characterized by abnormal bone development involving stippled (speckled) calcification of growing ends of long bones. The main features of this disorder are retarded growth, facial anomalies and short end bones in fingers.
• Chondrodysplasia punctata, non rhizomelic type: A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The non-rhizomelic forms tend to be milder, with minimal or no upper limb shortening. The Joints in the ends of the arms and legs tend to be more affected. Some of the specific disorders in this group are Conradi-Hunermann disease, Happle's chondrodysplasia and brachytelephalagnic chondrodysplasia punctata. The range of symptoms and severity may vary between disorders.
• Chondrodystrophia calcificans congenita: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Chondrodystrophia punctata, autosomal dominant: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• 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, distal trisomy 10q: A rare chromosomal disorder where the distal portion of the long arm of chromosome 10 is duplicated so there is three copies of it instead of the normal two. The condition is characterized by drooping upper eyelid, short palpebral fissures and camptodactyly.
• 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/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 11, deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 11q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 11 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 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 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 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 12, 12p trisomy: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Chromosome 12, trisomy 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• 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 duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material 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 12q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy.
• 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 duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities.
• Chromosome 14 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 14 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. The disorder is characterized by growth and mental retardation and characteristic facial features.
• 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 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 15 trisomy: A rare chromosomal disorder involving an extra copy of genetic material from chromosome 15.
• 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 triplication syndrome: A rare chromosomal disorder where there are three copies of a part of the long arm of chromosome 15 resulting in various anomalies.
• Chromosome 15q, deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 15.
• 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 15q26-qter Deletion Syndrome: A rare disorder where a portion of genetic material on a particular chromosomal location (15q26-qter) is missing which manifests in a variable range of symptoms.
• 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, 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, 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 19q, partial duplication: A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion.
• 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 1p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 1 is duplicated so there is three copies of it rather than the normal two.
• 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 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
• 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, 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 2, trisomy 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• 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 20, deletion 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted 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 20p deletion syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted 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 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 21q, partial deletion: A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted.
• Chromosome 22 suprenumerary marker: A rare chromosomal disorder involving structural abnormalities of chromosome 22 and are more prevalent in children born to older mothers.
• 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, 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: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
• Chromosome 22q duplication syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is duplicated.
• 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 2q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• 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, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
• 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 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 short arm deletion: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• 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 4p: A rare chromosomal disorder where a portion of chromosome four is duplicated so there is three copies of it instead of the normal two.
• 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 4p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• 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 duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• 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 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 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 deletion p22.2-p22.1: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
• 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, 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, 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, monosomy 8q: A rare chromosomal disorder involving deletion of the long arm (q) 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, partial trisomy: A rare chromosomal disorder where there are three copies of part 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 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material 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 deletion syndrome: A rare chromosomal disorder involving deletion of the short arm (p) of chromosome 8 resulting in various abnormalities.
• Chromosome 8p duplication syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
• 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 deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• 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, monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities.
• 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 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two.
• 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/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 9p tetrasomy syndrome: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
• 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 syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
• Chronic Kidney Disease: Long-term and generally irreversible disease of the kidneys due to infection, obstruction, congenital diseases or generalised diseases causing failure of the kidneys' normal functions.
• Chronic diarrhea: Diarrhoea lasting for more than 3 weeks
• Chronic diarrhoea: Diarrhoea lasting for more than 3 weeks
• Chylomicron Retention Disease: A rare condition characterized by the inability of the intestines to absorb fats from the diet which cause failure to thrive in infants.
• Classic Distal Renal Tubular Acidosis: A condition which is characterized by the formation of an acidosis due to a problem with the renal distal tubule
• Classic galactosemia: Rare serious genetic defect in galactose metabolism.
• Cleft palate: This when there is a congenital fissure of the median line of the palate.
• Cobalamin malabsorption, selective, with proteinuria: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Cockayne syndrome: A rare genetic disorder characterized by a senile-like appearance, hearing and vision impairment and sun sensitive skin.
• Coffin syndrome 1: A rare inherited syndrome characterized mainly by spasticity, seizures, congenital heart defects, short stature and delayed mental and motor development.
• Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
• Cohen Syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth.
• Combined pituitary hormone deficiency, non acquired, non syndromic: Deficiency of more than one pituitary hormone not associated with any other malformations or abnormalities. The condition may be due to a genetic defect or the result of tumors, surgery or radiation therapies. Symptoms can vary considerable depending on which hormones are affected.
• Common symptoms: The most common symptoms
• Common ventricle: A congenital heart defect where the wall separating the two heart ventricles is completely missing.
• 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).
• Congenital Disorders of Glycosylation: Congenital disorders of glycosylation is a group of disorders involving abnormally synthesis of N-linked oligosaccharides. There is a long chain of events involved in the synthesis and defects may occur with any of the compounds or enzymes involved in the process. Progressive impairment and regression of skills often occurs after a period of normal development following birth.
• 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 Vitamin B12 Malabsorption: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Congenital adrenal hyperplasia - simple virilizing form in females: A group of disorder that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The simple virilizing form involves a moderate deficiency of 21-hydroxylase and differs in its effects on males and females.
• Congenital chloride diarrhea: A rare birth disorder where the intestines don't absorb electrolytes properly (especially chloride) which leads to electrolyte imbalance which is potentially fatal if untreated. Symptoms often start while the infant is still inside the womb.
• 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 1F: 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 IF is caused by a defect on chromosome 17p13.1-p12 and involves a defect on the MPDU1 gene.
• 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 1I: 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 Ii is caused by a defect on chromosome 9q22 and involves a defect on the ALG2 gene.
• Congenital disorder of glycosylation type 1K: 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 Ik is caused by a defect on chromosome 16p13.3 and involves a defect in the gene for beta-1,4-mannosyltransferase. The disorder is generally fatal within a year or two of birth.
• Congenital disorder of glycosylation type 1L: 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 Il is caused by a defect on chromosome 11q23 and involves a defect in the ALG9 gene.
• Congenital disorder of glycosylation type 1M: 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 Im is caused by a defect on chromosome 9q34.11 and involves a defect in the TMEM15 gene.
• Congenital disorder of glycosylation type 1X: Congenital disorder of glycosylation is a rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1X also involves thrombocytopenia with normal levels of phosphomannomutase and phosphomannose isomerase. This form of the condition is severe and results in death during infancy.
• Congenital disorder of glycosylation type 2G: 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 IIg is caused by a defect on chromosome 17q25.1 and involves a defect on the COG1 gene.
• Congenital disorder of glycosylation type IIH: 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 IIh is caused by a defect on chromosome 16q22.1 and involves a defect on the COG8 gene.
• Congenital disorder of glycosylation type X - Bombay blood group phenotype: A rare inherited disorder characterized by abnormal neutrophil functioning which reduces the body's immunity. The abnormal neutrophils are unable to be transported to sites of infection due to their inability to adhere to certain blood vessel components which would normally lead them to the infection site. Infections may be life-threatening as the body is unable to destroy bacteria effectively. Type 2 LAD is where neutrophils can't adhere to necessary blood vessel components due to the absence of proteins on the blood vessel walls needed to bind and guide the neutrophils to the infection site.
• Congenital heart disease: Diseases of the heart that one is born with
• Congenital heart septum defect: A heart defect involving the septum which is present at birth. The defect is a hole in the wall of the heart that separates the right and left chambers and allows blood to flow through the hole. An atrial septal defect is a hole between the two upper heart chambers and a ventricular septal defect is a hole between the two lower heart chambers. Symptoms are determined by the size and exact location of the defect.
• Congenital hypoparathyroidism, seizures, growth and mental retardation and unusual facies: A rare syndrome characterized mainly by growth and mental retardation, seizures, unusual facial appearance and congenital hypoparathyroidism.
• Congenital hypothyroidism: A condition in infancy or early childhood due to an in-utero deficiency of thyroid hormones that can be caused by genetic or environmental factors, such as thyroid dysgenesis or hypothyroidism in infants of mothers treated with thiouracil during pregnancy.
• Congenital megalo-ureter: A birth defect where the ureter is abnormally dilated due to a structural obstruction of the end portion of the ureter.
• Congenital microgastria limb reduction defect: A rare syndrome characterized by micrograstia and limb reduction as well as other abnormalities.
• Congenital microvillous atrophy: A birth disorder involving a defect in the cells lining the intestines which results in watery diarrhea from birth which can be life threatening if not treated.
• Congenital mitral malformation: Malformations of the mitral valve that are present at birth. The mitral valve allows blood to flow between the two chambers on the left side of the heart. Types of mitral malformation are atresia (absent mitral valve), stenosis (narrowed mitral valve) and parachute mitral valve.
• Congenital short bowel: A rare birth defect where the bowel is abnormally short. A short bowel can impair the body's ability to absorb enough nutrients and hence result in malabsorption.
• Congenital tuberculosis: Fetal infection with tuberculosis
• Conradi-Huenermann Syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Conradi-Hunermann syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Copper deficiency, familial benign: A rare inherited copper deficiency. Copper has many functions in the body including heart function, cholesterol metabolism, brain development, immune defenses, blood supply, glucose metabolism and normal bone development.
• Cor Triatriatum: A rare congenital malformation where the heart has three atria instead of the normal two due to the presence of a separating membrane.
• 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 hypesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
• Corticosterone Methyloxidase type I Deficiency: A very rare genetic disorder where deficiency of a particularly chemical (aldosterone synthase) results in a deficiency of aldosterone. The condition can be severe enough to cause infant death unless the patient is diagnosed and treated.
• Creatine deficiency, X-linked: A rare inherited disorder characterized mainly by mental retardation, seizures, short stature and facial anomalies. The disorder is caused by the absence of a compound needed to transport creatine and thus creatine levels may be normal or high, but the body is unable to utilize it.
• Cretinism athyreotic: A rare form of congenital hypothyroidism that causes mental and physical growth retardation in infants or children. Prompt thyroid hormone therapy is essential in order to prevent progressive neurological and motor deterioration.
• Cri-du-chat syndrome: A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry.
• Crohn's disease: Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. The disease can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ileum.
• Crome syndrome: A very rare disorder characterized by various abnormalities including mental retardation, epilepsy and eye and kidney problems.
• Cushing-like symptoms: Symptoms similar to those of Cushing's disease
• Cutaneous photosensitivity colitis, lethal: A very rare syndrome where extreme sun sensitivity of the skin is associated with difficult to treat diarrhea. Death often occurs during infancy.
• Cutis Laxa, Autosomal Recessive, Type IIB: A recessively inherited condition characterized mainly by loose wrinkly skin and a prematurely aged appearance. Many of the reported cases involved parents who were related.
• Cystic Fibrosis: Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure.
• Cystinosis: A rare biochemical disorder involving the accumulation of a chemical called cystine in various parts of the body which can cause harmful effects.
• D-glycericacidemia:
• De Barsy Syndrome: A rare inherited disorder characterized by loose, inelastic skin, involuntary limb movements, cloudy corneas and other abnormalities.
• Defect in synthesis of adenosylcobalamin: A rare genetic disorder characterized by the impaired ability to make a chemical called adenosylcobalamin. Adenosylcobalamin is a derivative of vitamin B12. The defect results a biochemical abnormality which affects the body's normal biochemical functioning.
• Defective expression of HLA class 1: A genetic defect involving a deficiency of major histocompatibility complex class I which manifests as poor immunity. This deficiency tends to result in chronic respiratory tract infections and chronic lung disease. A deficiency of class II tends to cause severe combined immunodeficiency which manifests as systemic infections that do not appear in Class I deficiency.
• Defective expression of HLA class 2: An inherited immunodeficiency disorder which reduces the body's ability to fight infection. Lack of treatment can result in infant death from infection.
• Deficiency of Member 8 Acyl-CoA Dehydrogenace Family: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
• Del (4) (pter-p16.2) and dup (2) (q37.1-qter): A rare syndrome characterized by the main features of Wolf syndrome which include profound mental retaradation and oral clefting. Patients tend to die soon after birth.
• Deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• 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 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted 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.
• 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 4p: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• 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 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.
• Deletion 8q: A rare chromosomal disorder involving deletion of the long arm (q) 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.
• Developmental problems: Physical or mental development difficulty.
• 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.
• Diabetes: Symptoms similar to those of diabetes
• Diabetes insipidus, nephrogenic type 2: A rare congenital condition where the kidney fails to respond to the antidiuretic hormone (arginine vasopressin), thus preventing reabsorption of water. This results in excessive urination and thirst. Type II is specifically caused by a defect in the AQP2 gene on chromosome 12q13.
• Diabetes insipidus, nephrogenic, dominant type: A rare dominantly inherited, congenital condition where the kidney fails to respond to the antidiuretic hormone (arginine vasopressin), thus preventing reabsorption of water. This results in excessive urination and thirst. The condition is specifically caused by a defect in the AQP2 gene on chromosome 12q13.
• Diabetes insipidus, nephrogenic, recessive type: A rare recessively inherited, congenital condition where the kidney fails to respond to the antidiuretic hormone (arginine vasopressin), thus preventing reabsorption of water. This results in excessive urination and thirst. The condition is specifically caused by a defect in the AQP2 gene on chromosome 12q13.
• Diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea: A rare condition involving autoimmune problems which can variably manifest as enteropathy (diarrhea), hemolytic anemia, and endocrine gland diseases such as diabetes mellitus and thyroid disease. Resistance to viral infections is poor. The condition is life-threatening, especially during infancy and early childhood. As the condition is inherited in a X-linked manner, males tend to suffer severe symptoms whereas females suffer few if any symptoms as they are a carrier of the condition.
• Diabetes-like symptoms: Symptoms similar to those of diabetes
• Diamond-Blackfan anemia: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
• Diarrhea - polyendocrinopathy - infections, X-linked: A rare X-linked disorder characterized by diarrhea and severe, fatal infections during infancy. The body's immune system attacks it's own endocrine glands and various other organs. Females are carriers and can have mild symptoms whereas males suffer the fatal course of the disease.
• Diarrhea 2, with Microvillous Atrophy: A rare congenital condition characterized by diarrhea resulting form a defect in small intestine.
• Diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked: A rare condition involving autoimmune problems which can variably manifest as enteropathy (diarrhea), hemolytic anemia, and endocrine gland diseases such as diabetes mellitus and thyroid disease. Resistance to viral infections is poor. The condition is life-threatening, especially during infancy and early childhood. As the condition is inherited in a X-linked manner, males tend to suffer severe symptoms whereas females suffer few if any symptoms as they are a carrier of the condition.
• Dibasic aminoaciduria type 1: A rare disorder where the kidney excretes excessive amounts of certain amino acids (lysine, ornithine and arginine.
• Diencephalic syndrome of infancy: A rare syndrome usually caused by a brain tumor located near the hypothalamus and results in symptoms such as low blood sugar, pale skin and loss of skin fat and failure to thrive.
• 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.
• Double outlet right ventricle: A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. The severity of symptoms varies depending on the location of the connecting hole in the heart and the exact location of the two arteries with respect to the heart.
• Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
• Dubowitz Syndrome: A rare genetic and developmental disorder characterized by infantile eczema, small stature, microcephaly and peculiar facial features.
• Dup (3) (q23-qter) and del (3) (pter-p25): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in a few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
• Dup (5)(q11-q22): A rare chromosomal disorder involving duplication of a certain section (q11-q22) of the long arm of chromosome 5 which results in various abnormalities.
• 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 (5)(q31-qter): A rare chromosomal disorder involving duplication of a certain section (q31-qter) of the long arm of chromosome 5 which results in various abnormalities.
• Dup (5)(q32-qter): A rare chromosomal disorder involving duplication of a certain section (q32-qter) of the long arm of chromosome 5 which results in various abnormalities.
• Dup (5)(q33-qter): A rare chromosomal disorder involving duplication of a certain section (q33-qter) of the long arm of chromosome 5 which results in various abnormalities.
• Duplication 12p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Duplication 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is 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 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• 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 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 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
• 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.
• Dwarfism: An abnormally short individual
• Dyggve-Melchior-Clausen Syndrome: A rare genetic bone growth disorder characterized by short stature and other skeletal deformities.
• Ectodermal dysplasia, anhidrotic with T-cell immunodeficiency, autosomal dominant: An inherited disorder characterized by dry, rough skin, sparse scalp hair, cone-shaped teeth and an immune system disorder.
• Ectodermal dysplasia, hypohidrotic, with immune deficiency: A rare genetic disorder characterized inability to sweat, immune system problems and hair and teeth abnormalities.
• 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.
• Ellis -van Creveld syndrome:
• 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.
• Encephaloceles: Improper protrusions of parts of the meninges and brain.
• Encephalopathy due to GLUT1 deficiency: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
• Endocardial fibroelastosis: A rare heart disorder characterized by a thickening of the heart muscle lining causing heart enlargement and heart failure.
• Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy: A rare condition involving autoimmune problems which can variably manifest as enteropathy (diarrhea), hemolytic anemia, and endocrine gland diseases such as diabetes mellitus and thyroid disease. Resistance to viral infections is poor. The condition is life-threatening, especially during infancy and early childhood. As the condition is inherited in a X-linked manner, males tend to suffer severe symptoms whereas females suffer few if any symptoms as they are a carrier of the condition.
• Erythroderma desquamativa of Leiner: A rare skin disorder characterized by a reddish, thickened skin rash that spreads to various parts of the body and is usually accompanied by diarrhea, failure to thrive, anemia and recurring local and systemic infections.
• Erythroderma lethal congenital: A rare disorder which results in death within a year of birth and involves skin and growth problems.
• Esophagus symptoms: Symptoms affecting the esophagus (digestive throat passage)
• Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis: A rare syndrome characterized mainly by anemia, pancreatic dysfunction and abnormal skull calcification.
• FG Syndrome: A rare genetic disorder characterized by anal abnormalities, reduced muscle tone and a prominent forehead.
• 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.
• Face symptoms: Symptoms affecting the face
• Faciocardiorenal syndrome: A rare syndrome characterized by a variety of abnormalities such as kidney anomaly, mental retardation, unusual facial features, heart problems and joint problems. Infant death or stillbirth may occur in some cases.
• Familial Selective Vitamin B12 Malabsorption: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Familial hyperchylomicronemia: A rare inherited inborn error of metabolism involving the absence of the enzyme called lipoprotein lipase which results in increased blood triglyeride and chylomicron levels.
• 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.
• Fanconi's anemia: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
• Fanconi-Bickel syndrome: A rare inherited disorder where the impaired metabolism of carbohydrates results in a build-up of glycogen in the liver.
• Farber's disease: A rare inherited biochemical disorder involving the deficiency of an enzyme called ceramidase resulting in the harmful accumulation of certain chemicals in the body which causes damage and inflammation.
• Fetal Hydantoin Syndrome: A rare disorder caused by fetal exposure to phenytoin (anticonvulsant drug) and resulting in various abnormalities.
• Fetal thalidomide syndrome: The maternal use of thalidomide during pregnancy increases the risk of birth defects.
• Fetal warfarin syndrome: A rare disorder caused by fetal exposure to warfarin (anticoagulant) and resulting in physical, neurological and mental abnormalities.
• Filippi Syndrome: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
• Finnish lethal neonatal metabolic syndrome: A very rare lethal metabolic disorder characterized by a deficiency of complex III which causes brain, kidney and liver problems and ultimately results in early death.
• Finnish nephrosis syndrome: A rare inherited disorder where the kidney's ability to filter is defective and results in excessive protein in the urine, failure to thrive and malnutrition.
• Floating Harbor Syndrome: A rare genetic disorder characterized by growth deficiency, typical facial appearance and speech delay.
• Follicular hamartoma - alopecia - cystic fibrosis: A rare syndrome characterized by small benign growths that develop in hair follicles, alopecia and cystic fibrosis.
• Food Allergy - milk: A milk allergy is an adverse reaction by the body's immune system to milk or food containing milk. 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 considerably amongst patients from a severe anaphylactic reaction to asthma, abdominal symptoms, eczema or headaches.
• Food intolerances: Any inability to tolerate particular foods.
• Forbes disease: A rare inherited glycogen storage disease caused by a deficiency of the enzyme amylo-1,6-glucosidase resulting in a build up of glycogen in the liver and muscles.
• Francois dyscephalic syndrome: A rare genetic disorder characterized by very small stature, microphthalmia, small pinched nose and hypotrichosis.
• Freeman-Sheldon Syndrome: A very rare genetic disorder characterized by abnormal development of the skeleton and muscles.
• Froehlich syndrome: A rare condition where an endocrine abnormality (caused by such things as a pituitary tumor or damage to the hypothalamus) affects hormone levels which results in a variety of symptoms.
• Fructose-1-phosphate aldolase deficiency, hereditary: An inherited metabolic disorder where deficiency of the enzyme fructose-1-phsophate aldolase prevents fructose being metabolized resulting in fructose intolerance.
• Frölich's syndrome: A hypothalmus disorder that affects males causing them to be overweight, have no sexual development and impaired sleep and appetite.
• Fucosidosis: A rare progressive biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues.
• Fucosidosis type 1: A rare biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. It is an infantile form of fucosidosis which starts early and rapidly progresses to early death.
• Fucosidosis type II: A form of the biochemical disorder called fucosidosis where an enzyme deficiency (alpha-fucosidase) results in the accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. Symptoms start later and progress slower than in type I and is distinguished by warty skin growths.
• GAPO syndrome: A rare condition characterized by retarded growth, alopecia, otpic atrophy and failure of teeth to erupt.
• 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.
• Galactosemia: Accumulation of galactose in the blood leading to mental retardation and failure to thrive if not corrected.
• Galactosemia I: A rare inherited disorder where deficiency of a particular enzyme (galactose-1-phosphate uridyl transferase) prevents the metabolism of galactose which is a sugar component of milk. Ranges from milk intolerance in mild cases to death in severe untreated cases.
• 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.
• 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.
• Gastroesophageal Reflux Disease: Repeated reflux of stomach acid into the throat.
• Gaucher Disease: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3.
• Geleophysic dwarfism: A rare genetic disorder characterized by a happy facial expression, short stature and limb abnormalities.
• Generalized lipodystrophy with mental retardation, deafness, short stature and slender bones: A recessively inherited disorder characterized by short stature, mental retardation, deafness, slender bones and degeneration of the body's fat tissue.
• Geroderma osteodysplastica: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gerodermia osteodysplastica: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gerodermia osteodysplastica hereditaria: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gerodermia osteodysplasticum: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Giardia: Contagious parasitic digestive infection
• Glucocorticoid deficiency, familial: A rare inherited disorder where the adrenals don't respond to ACTH resulting in glucocorticoid deficiency.
• Glucose-galactose malabsorption: An inherited metabolic disorder where the small intestine is unable to absorb and transport glucose and galactose that is consumed in the diet due to a lack of intestinal monosaccharidase.
• Glutaric aciduria 1: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
• Glutaricaciduria type 1: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
• Glutaricaciduria type 3: A very rare inherited metabolic disorder involving a deficiency of the glutaryl-CoA oxidase enzyme. The disorder is severe with death occurring during infancy or soon after birth.
• Glutaryl-CoA dehydrogenase deficiency: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
• Glycogen branching deficiency: A rare metabolic disorder where an enzyme deficiency (glycogen branching enzyme) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme deficiency and how strictly treatment measures are adhered to.
• Glycogen debranching deficiency: A rare metabolic disorder where an enzyme deficiency (amylo-1,6-glucosidase) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme deficiency and how strictly treatment measures are adhered to.
• Glycogen storage disease type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down.
• Glycogen storage disease type 6: A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase b kinase leads to hypoglycemia and accumulation of glycogen in the liver.
• Glycogen storage disease type 6A, due to phosphorylase kinase deficiency: A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase kinase leads to hypoglycemia and accumulation of glycogen in the liver. Phosphorylase kinase deficiency can cause glycogen storage disease type VIa and/or IX.
• Glycogenosis type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down. The severity of the condition is variable and onset may occur during infancy, childhood or adulthood.
• 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.
• Grasbeck-Imerslund Disease: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Greig Cephalopolysyndactyly Syndrome: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities.
• Growth Hormone Deficiency: A deficiency in growth hormone which results in poor growth.
• Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate: A rare syndrome characterized mainly by mental retardation, retarded growth, small head, cleft palate and facial abnormalities.
• Growth suppression: The suppression of the growth of an individual
• Growth symptoms: Symptoms related to poor or excessive growth.
• Gräsbeck-Imerslund disease: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• HIV/AIDS: HIV is a sexually transmitted virus and AIDS is the progressive immune failure that HIV causes.
• Hallermann-Streiff Syndrome: A condition which affects stature, head shape and hair growth
• Hanhart syndrome type I: A rare genetic disorder characterized by retarded growth, impaired libido, distinctive facial features, delayed puberty and excess fatty deposits in breast and abdominal area.
• Hanhart syndrome type II: A rare genetic disorder characterized by retarded growth, distinctive facial features, delayed puberty, excess fatty deposits in breast and abdominal area, small jaw , small tongue, hand and foot deformities and missing teeth.
• Harrod Doman Keele syndrome: A very rare syndrome characterized mainly by skull, facial, genital, finger and toe abnormalities.
• Havlikova syndrome: A rare familial disorder involving liver, spleen and pancreatic problems.
• Head symptoms: Symptoms affecting the head or brain
• Heart disease: Any disease that affects that heart but particularly relating to its own blood supply
• Heart symptoms: Symptoms affecting the heart
• Heartburn: Chest or digestive pain from reflux of stomach acid
• Hecht syndrome: A rare genetic disorder characterized by the inability to open the mouth due to short muscles as well as hand movement abnormalities also due to shortened muscles.
• Heiner syndrome: A disease caused by the precipitation in the blood of antibodies to cow's milk.
• Hemophagocytic lymphohistiocytosis, familial, 1: A rare recessively inherited disorder involving an overactive immune system. More specifically, the body becomes infiltrated by large numbers of histiocytes (macrophages) that accumulate in various organs such as the liver, spleen, bone marrow, skin and central nervous system. It usually only occurs in infants and young children and can be life-threatening.
• Hemophagocytic lymphohistiocytosis, familial, 2: A rare recessively inherited disorder involving an overactive immune system. More specifically, the body becomes infiltrated by large numbers of histiocytes (macrophages) that accumulate in various organs such as the liver, spleen, bone marrow, skin and central nervous system. It usually only occurs in infants and young children. Type 2 is caused by a defect on chromosome 10q22.
• Hemophagocytic lymphohistiocytosis, familial, 3: A rare recessively inherited disorder involving an overactive immune system. More specifically, the body becomes infiltrated by large numbers of histiocytes (macrophages) that accumulate in various organs such as the liver, spleen, bone marrow, skin and central nervous system. It usually only occurs in infants and young children. Type 3 is caused by a defect on chromosome 17q25.1.
• Hemophagocytic lymphohistiocytosis, familial, 4: A rare recessively inherited disorder involving an overactive immune system. More specifically, the body becomes infiltrated by large numbers of histiocytes (macrophages) that accumulate in various organs such as the liver, spleen, bone marrow, skin and central nervous system. It usually only occurs in infants and young children. Type 4 is caused by a defect on chromosome 6q24.
• Hemophagocytic reticulosis: The abnormal proliferation of reticulum cell (histiocytes) which infiltrate various organs and. Macrophages destroy blood cells causing blood abnormalities. Meningoencephalitis frequently occurs when the histiocytes infiltrate the mininges and cerebral tissue. Symptoms start at birth or soon after and become progressively worse without treatment. Medication can control the condition but a hematopoietic stem cell transplant is needed to achieve remission.
• Hemosiderosis: A rare lung condition where bleeding into the lungs causes lung damage due to the accumulation of iron. The severity of the condition is determined by the amount of bleeding.
• Hereditary methemoglobinemia, recessive, type II: A rare inherited blood disorder where the hemoglobin (the oxygen-carrying part of red blood cells) can't bind with oxygen which impairs the oxygen supply to parts of the body, especially during exertion when more oxygen is needed by the body. The type II form of Gibson syndrome is more severe than type I and is characterized by cyanosis as well as neurological problems, mental deficiency and various other anomalies. Type I has enzyme deficiency (cytochrome B5 reductase) only in the red blood cells whereas in Type II the enzyme deficiency occurs in other body cells as well as red blood cells.
• Hereditary primary Fanconi disease: A rare inherited disorder characterized by defective reabsorption of various substances such as phosphate, potassium, amino acids and glucose which manifests as a wide range of abnormalities and problems.
• Hereditary pyropoikilocytosis: A rare inherited condition where abnormal red blood cells are very sensitive to heat resulting in their destruction and hence, hemolytic anemia.
• Hirschsprung's disease: A rare condition where abnormalities in the bowel muscles prevent it from contracting normally and pushing the fecal matter through which results in obstruction and dilation of the bowel.
• Holoprosencephaly, recurrent infections, and monocytosis: A rare syndrome characterized by recurring infections and a brain anomaly. Death usually occurs during the first years of life due to sepsis.
• Holzgreve-Wagner-Rehder syndrome: A rare genetic disorder characterized by extra fingers, cleft palate, heart abnormalities, growth retardation and various other anomalies.
• Hooft disease: A rare disorder characterized by mental and physical retardation, red rash and low blood lipid level.
• Hoyeraal-Hreidarsson syndrome: A very rare syndrome characterized mainly by retarded growth, a small head, anemia, immunodeficiency and an underdeveloped brain (cerebellum).
• Hutterite cerebroosteonephrodysplasia syndrome: A very rare disorder characterized by short stature and a severe degenerative brain disorder.
• Hyalinosis, infantile systemic: A rare genetic disorder involving abnormal deposits of hyaline throughout various body tissues. Manifestations include progressive joint contractures, skin abnormalities and pain.
• Hydrocephalus: A condition which is characterized by marked dilatation of the cerebral ventricles
• Hyperdibasic aminoaciduria type 2: A rare inborn urea cycle disorder characterized by an enzyme defect in the amino acid transporter gene SLC7A7 (positive amino acid transporter).
• Hyperglycerolemia: A genetic condition where an enzyme deficiency (glycerol kinase) results in an accumulation of glycerol in the body as well as it's excretion through the urine.
• Hyperglycerolemia, infantile form: A genetic condition where an enzyme deficiency (glycerol kinase) results in an accumulation of glycerol in the body as well as it's excretion through the urine. The infantile form of the condition involves a deficiency of complex glycerol kinase and is associated with a variety of physical and developmental abnormalities.
• Hyperglycinemia: Increased blood levels of glycine. There are two types of hyperglycinemia (ketotic and nonketotic) with different symptoms.
• Hyperimmunoglobulinemia E: A rare inherited immunodeficiency disorder characterized by frequent pus-producing infections. The body's ability to fight infection is affected by a lack of normal functioning neutrophils.
• Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency: A rare disorder involving an enzyme deficiency which results in increased methionine levels in the blood. The condition manifests as psychomotor delay and severe muscle disease.
• Hyperreninemic Hypoaldosteronism, Familial 2: A very rare genetic disorder where deficiency of a particularly chemical results in a deficiency of aldosterone. The condition can be severe enough to cause infant death unless the patient is diagnosed and treated.
• Hyperthyroidism: The excessive activity of the thyroid gland
• Hypoaldosteronism, familial: A very rare genetic disorder where deficiency of a particularly chemical (aldosterone synthase) results in a deficiency of aldosterone. The condition can be severe enough to cause infant death unless the patient is diagnosed and treated.
• Hypoparathyroidism - short stature - mental retardation: A very rare syndrome characterized mainly by low parathyroid hormone level, short stature and mental retardation.
• Hypophosphatasia: A rare genetic disorder characterized by short limbs, dwarfism and general lack of bone calcification.
• Hypopituitarism: A condition characterized by diminished hormonal section by the pituitary gland
• Hypothyroidism: The decreased activity of the thyroid gland
• Hypotonia - failure to thrive - microcephaly: A rare fatal metabolic disorder characterized by reduced muscle tone, failure to thrive and a small head. The disease is caused by a deficiency of Leukotriene C4 synthase.
• Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response: A very rare syndrome characterized by reduced muscle tone and nystagmus in infants and ataxia. The electrical signals in nerves that send messages from the ears to the brain were abnormal but usually there were no hearing problems
• 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).
• ICF syndrome: A very rare, recessively inherited syndrome characterized mainly by a weak immune system and facial anomalies.
• IPEX syndrome: A rare condition involving autoimmune problems which can variably manifest as enteropathy (diarrhea), hemolytic anemia, and endocrine gland diseases such as diabetes mellitus and thyroid disease. Resistance to viral infections is poor. The condition is life-threatening, especially during infancy and early childhood. As the condition is inherited in a X-linked manner, males tend to suffer severe symptoms whereas females suffer few if any symptoms as they are a carrier of the condition.
• Imerslund's Anemia: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Imerslund's Syndrome: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Imerslund-Gräsbeck syndrome: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Imerslund-Najman-Grasbeck Anemia: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Imerslund-Najman-Grasbeck Disease: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Imerslund-Najman-Grasbeck Syndrome: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 1: A rare condition where a genetic anomaly affects the movement of calcium through the body and results in immune system problems. Defect 1 is linked to a defect in the ORAI1 gene on chromosome 12q24. The condition was reported in two siblings.
• Immune defect due to absence of thymus: A congenital disorder where the absence of the thymus results in immune system problems (deficiency of T-Lymphocytes). The thymus is involved in the production of mature functioning T-cells which fight infection.
• Immune dysregulation - polyendocrinopathy - enteropathy, X linked: A rare condition involving autoimmune problems which can variably manifest as enteropathy (diarrhea), hemolytic anemia, and endocrine gland diseases such as diabetes mellitus and thyroid disease. Resistance to viral infections is poor. The condition is life-threatening, especially during infancy and early childhood. As the condition is inherited in a X-linked manner, males tend to suffer severe symptoms whereas females suffer few if any symptoms as they are a carrier of the condition.
• Immunodeficiency, combined, severe, due to ZAP70 deficiency: A very rare, recessively inherited form of severe combined immunodeficiency.
• 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.
• Inborn urea cycle disorder: A genetic disorder involving a deficiency of one of the enzymes needed in the urea cycle. The urea cycle is the process of removing ammonia from blood stream by converting it to urea and excreting it via urine. A build-up of ammonia in the blood is toxic to the body and can cause serious brain damage. The progressively severe symptoms usually become obvious within the first few weeks of birth. Nevertheless, mild or partial enzyme deficiencies may cause little or no symptoms or symptoms that don't start until later in life.
• 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 symptoms: Symptoms affecting babies and infants.
• Infantile Refsum Disease: Genetic disease affecting nerve and muscle control.
• Infantile dysphagia: Swallowing problems in infants.
• Infantile hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate. The condition becomes noticeably during infancy and involves a period of normal development (about 6 months) followed by deterioration due to bone demineralization.
• Infantile multisystem inflammatory disease: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
• Infantile sialic acid storage disorder: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy.
• Infection: Infections as a symptom.
• Inflammatory bowel disease: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable.
• Inflammatory myofibroblastic tumors: A rare tumor that tends to occur mainly in the soft tissue and internal body organs. The more common specific locations are soft tissue, mediastinum, pancreas, gastrointestinal and genitourinary tracts, mouth, skin, breast, nerve, bone and central nervous system. The type and severity of symptoms is determined by the location and size of the tumor.
• Intermediate cystinosis: Cystinosis is a condition where excess amino acid cystine builds up to harmful levels in the body. The intermediate form of cystinosis starts later than the nephropathic form but the symptoms are the same.
• Intestinal pseudo-obstruction: A digestive disorder where the intestines are unable to contract normally and push food through the digestive system. This results in symptoms similar to an obstruction and hence the name pseudo-obstruction. The walls of the affected gastrointestinal tract becomes thin and the muscles that control its motion start to degenerate.
• Intestinal pseudoobstruction chronic idiopathic: A digestive disorder where the intestines are unable to contract normally and push food through the digestive system. This results in symptoms similar to an obstruction and hence the name pseudoobstruction. The condition has no obvious cause.
• Intractable diarrhea with enterocytes assembly abnormalities, congenital, familial: An inherited disorder characterized by severe, chronic diarrhea in infants due to defects in the intestinal absorptive cells called enterocytes.
• Intrauterine Growth Retardation: Slowly growing fetus in the womb during pregnancy
• Isobutyric aciduria: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
• Isobutyryl-coenzyme A dehydrogenase deficiency: An extremely rare genetic condition where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine.
• Ivemark Syndrome: A rare progressive disorder characterized by absence or abnormal development of the spleen and malformations of the heart vessels.
• Jirásek-Zuelzer-Wilson syndrome: A rare abnormality that can occur in newborn infants and involves a complete lack of nerve tissue in the entire colon. The colon is unable to move digesting material through it and leads to a blockage of the digestive system.
• Johanson-Blizzard Syndrome: A rare genetic disorder involving a range of abnormalities including a characteristic beak-like small nose, hypothyroidism and deafness.
• 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 Megaloblastic Anemia: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• 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 idiopathic arthritis: A group of chronic inflammatory joint disorders that affects children. The condition generally involves periods of time where the condition is active followed by periods of abatement of symptoms. In some cases, the condition can be systemic and can cause symptoms such as fever and rash with organ involvement. There are three main types of juvenile idiopathic arthritis - oligoarticular, polyarticular and systemic (Still's disease).
• Juvenile myelomonocytic leukemia: A rare form of malignant bone marrow cancer that occurs in children and involves the proliferation of immature precursors of certain blood cells - myelocytes and monocytes. The proliferation is slower than in acute forms of the disease.
• Juvenile nephronophthisis: A rare inherited kidney disorder characterized by formation of cysts inside the kidney, kidney fibrosis and tubular atrophy which leads to progressive kidney failure.
• Juvenile polyposis of infancy: A genetic inherited risk of developing gastrointestinal tumors. The condition is characterized by gastrointestinal polyps which have a high risk of eventually becoming malignant. The polyps can cause gastrointestinal symptoms even if they aren't malignant.
• Juvenile polyposis syndrome, infantile form: A genetic inherited risk of developing gastrointestinal tumors. The condition is characterized by gastrointestinal polyps which have a high risk of eventually becoming malignant. The polyps can cause gastrointestinal symptoms even if they aren't malignant.
• Kabuki syndrome: A rare genetic disorder characterized by distinctive facial features.
• Kaplowitz-Bodurtha syndrome: A very rare syndrome characterized mainly by reduced pituitary hormone production and small eyes.
• Kartagener syndrome: A rare genetic disorder characterized by enlarged bronchial tubes, sinusitis and cross-positioning of body organs.
• Kidney failure: The inability of the kidney to function correctly in its function of excreting metabolites from the blood
• Kidney symptoms: Symptoms affecting one or both kidneys.
• Kowarski syndrome: A condition resulting from the presence of ineffective growth hormone.
• Kwashiorkor: A malnutrition state that is produced by severe protein deficiency
• LEOPARD Syndrome: A rare genetic disorder characterized by multiple lentigines, pulmonic stenosis, widely spaced eyes and deafness.
• Langerhans Cell Histiocytosis: A condition which is characterized by proliferation of Langerhans cells
• Lead poisoning: A type of heavy metal poisoning caused by excessive exposure to lead.
• Leigh syndrome: A rare, progressive, neurological disorder characterized by the degeneration of the brain and impaired function of various body organs. The condition is caused by a systemic deficiency of the cytochrome C oxidase enzyme.
• Leigh syndrome, French Canadian type: A rare, progressive, inherited metabolic disorder where a deficiency of the enzyme cytochrome C oxidase affects skeletal muscles, connective tissue, brain and liver.
• Leiner Disease: A skin and immune system disorder occurring in newborns and characterized by a patch of thick red skin that usually starts on the buttocks and spreads to other parts of the body. Recurring infections, failure to thrive, wasting and nervous system deficiency are also symptomatic of the condition.
• Leiomyomatosis of esophagus, cataract and hematuria: A very rare syndrome characterized mainly by cataracts, benign esophageal tumors and kidney cell cancer.
• Lenz Majewski hyperostotic dwarfism: A rare genetic disorder characterized by dense, thick bones and symphalangism.
• Leprechaunism: A very rare genetic disorder characterized by insulin resistance which leads to growth delay and endocrine system abnormalities.
• Leri-Weil syndrome: A rare genetic disorder characterized by short forearms, madelung deformity and short lower legs in some cases.
• Leucinosis: A term used to describe high levels of leucine in the body. It is associated with a metabolic disorder called maple syrup urine disease where there is a deficiency of an enzyme needed to break down leucine so it builds up within the body.
• Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema: A rare condition characterized by the association of arthritis, colitis, low blood gammaglobulin levels and brain anomalies.
• Lightwood-Albright syndrome: A rare syndrome caused by kidney dysfunction.
• Lipoamide dehydrogenase deficiency: A very rare enzyme deficiency (dihydrolipoamide dehydrogenase) which can cause lactic acidosis. The age of onset and symptoms are variable.
• Lipoprotein disorder: Abnormal lipoprotein use or processing by the body. The main repercussions of the disorder tends to be fatty deposits called xanthomas and premature heart disease. Examples of specific lipoprotein disorders includes type II hyperlipoproteinemia, hypoalphalipoproteinemia, hypertriglyceridemia and high lipoprotein a levels. Lipoprotein disorders can also result in harmfully low levels of lipoproteins which can cause symptoms such as failure to thrive and neuromuscular degeneration. Abetalipoproteinemia is an example of a lipoprotein disorder involving low blood lipoprotein levels.
• Lipoproteine lipase deficiency: A rare inherited inborn error of metabolism involving the absence of the enzyme called lipoprotein lipase which results in increased blood triglyeride and chylomicron levels.
• Lissencephaly: A very rare disorder characterized by abnormal brain formation so that the brain surface appears smooth rather than convoluted.
• Lissencephaly syndrome type 1: A very rare form of the brain formation disorder called lissencephaly where the brain surface is abnormally smooth rather than convoluted resulting in mental retardation. Physical malformations are also present.
• Lissencephaly, X-linked, 1: Abnormal brain development resulting in an abnormally smooth brain surface which results in neurological symptoms such as mental retardation. This particular type is inherited in a X-linked manner is caused by a defect in the doublecortin gene on chromosome Xq22.3-q23.
• Lissencephaly, type 1, X-linked: Abnormal brain development characterized by an abnormally smooth brain. This form of the disorder is inherited in a X-linked manner (defect on the DCX gene) and the corpus callosum fails to develop. Males tend to be affected more severely than females.
• Liver symptoms: Symptoms affecting the liver
• Low birth weight: When the weight of a new born baby is below average
• Lowe oculocerebrorenal syndrome: A rare inherited metabolic disorder characterized primarily by eye and bone abnormalities, mental retardation and kidney problems.
• 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.
• Lymphoid interstitial pneumonia: A relatively rare form of lung disease characterized by the buildup of lymphocytes (a type of white blood cell) in the air spaces or alveoli of the lungs. The condition can affect children or adults and is frequently associated with conditions such as HIV and autoimmune conditions such as rheumatoid arthritis and Hashimoto's thyroiditis. Symptoms may develop gradually over a period of months or even years in some cases.
• 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.
• MHC class 1 or class 2 deficiency: An inherited immunodeficiency disorder involving a deficiency of class I and II major histocompatibility complexes. Serious infections can result.
• Majeed syndrome: A rare syndrome characterized by blood abnormality and recurring bone infections.
• Malabsorption: Dysfunctional absorption
• Malabsorption due to bile acid synthesis defects, idiopathic: Impaired synthesis of bile acids which impairs digestive system functioning and results in severely inhibited absorption of fats.
• Malabsorption syndrome: is an alteration in the ability of the intestine to absorb nutrients adequately into the bloodstream
• Maple syrup urine disease: An inherited metabolic disorder involving amino acid metabolism and characterized by a sweet smelling urine, similar to maple syrup.
• Maple syrup urine disease, type 1A: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 1A specifically involves a defect in the E1-alpha subunit gene.
• Maple syrup urine disease, type 1B: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 1B specifically involves a defect in the E1-beta subunit gene.
• Maple syrup urine disease, type II: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 2 specifically involves a defect in the E2 subunit gene.
• Maple syrup urine disease, type III: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 3 specifically involves a defect in the E3 subunit gene.
• Marasmus: A form of malnutrition caused by a severe deficiency of both protein and calories
• Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
• Marshall-Smith Syndrome: A rare genetic disorder characterized by accelerated growth and maturation, shallow orbits and broad middle bones of fingers.
• Martsolf syndrome: A rare inherited condition characterized by mental retardation, cataracts, small head and hypogonadism (reduced production of hormones by ovaries or testes).
• Maternally Inherited Leigh Syndrome: A rare condition where Leigh syndrome is inherited from the mother. Leigh syndrome is characterized by degeneration of the brain and impaired function of various organs.
• Medullary cystic kidney disease, autosomal recessive: A genetic kidney disease which causes kidney failure in children, usually during adolescence.
• Megaloblasti Anemia, 1: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Megaloblastic Anemia, Familial: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Megaloblastic anemia: A rare blood disorder where insufficient vitamin B12 absorption results in reduced production of red blood cells and increased levels of abnormal, enlarged red blood cells (megaloblasts). Vitamin B12 insufficiency can result from absorption problems or lack of dietary intake of the vitamin or folic acid.
• Megalocornea mental retardation syndrome: A very rare genetic disorder characterized by reduced muscle tone from birth, mental retardation to varying degrees and eye abnormalities. The type and severity of symptoms is variable
• Menkes Disease: Genetic disease of copper deficiency.
• Mental Retardation, Joint Hypermobility With or without Metabolic Abnormalities: A rare syndrome observed in a small number of patients and characterized by the association of mental retardation, loose joints. Metabolic abnormalities occur in only some patients.
• Mental retardation - epileptic seizures - hypogonadism - hypogenitalism -microcephaly - obesity: A very rare syndrome characterized mainly by mental deficiency, epilepsy, small head, small genitals and obesity. Death occurs within the first two years of life.
• Mental retardation, X-linked syndromic 12: A syndromic form of mental retardation which also involves mutism, retarded growth, seizures and frequent infections. 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 genetic defect is located on chromosome Xp11.
• Mental retardation, X-linked, 12: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect on chromosome Xp11.
• Mental retardation, X-linked, Reish type: A rare disorder characterized by mental retardation, brain anomalies, skeletal malformations, intestinal problems, eye and ear anomalies, cleft palate and kidney abnormalities. Some infants with the disorder die soon after birth due to breathing 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, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity: A very rare syndrome characterized mainly by mental deficiency, epilepsy, small head, small genitals and obesity. Death occurs within the first two years of life.
• Metabolic disorder: occurs when abnormal chemical reactions occur in the body
• Methylmalonic acidemia, Cobalamin B deficiency: An inherited organic acid disorder where an enzyme deficiency (Cobalamin B deficiency) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of glycine and methylmalonic acid which results in harmful affects.
• Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency: An inherited organic acid disorder where an enzyme (Methylmalonyl CoA mutase apoenzyme) deficiency impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of glycine and methylmalonic acid which results in harmful affects.
• Methylmalonic acidemia, cobalamin A deficiency: An inherited organic acid disorder where an enzyme deficiency (Cobalamin A deficiency) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of glycine and methylmalonic acid which results in harmful affects.
• Methylmalonic acidemia, methylmalonyl CoA racemase deficiency: An inherited organic acid disorder where an enzyme (methylmalonyl CoA racemase) deficiency impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of glycine and methylmalonic acid which results in harmful affects.
• Methylmalonic acidemia, synthesis defect of AdoCbl and MeCbl: An inherited organic acid disorder where an enzyme deficiency impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of glycine and methylmalonic acid which results in harmful affects. The disorder results from a combined synthesis defect of AdoCbl and MeCbl.
• Methylmalonic acidemia, vitamin B12 responsive: A rare genetic disorder characterized by the impaired ability to make a chemical called adenosylcobalamin. Adenosylcobalamin is a derivative of vitamin B12. The defect results a biochemical abnormality which affects the body's normal biochemical functioning. The condition responds to the administration of vitamin B12.
• Methylmalonic aciduria - homocystinuria: A rare group of disorders characterized by methylmalonic aciduria and homocystinuria resulting from abnormal metabolism of vitamin B12 by the liver. There are various subtypes of the condition with varying ages of onset and severity of symptoms.
• Methylmalonicaciduria with homocystinuria, cobalamin F: An inherited organic acid disorder where an enzyme deficiency (cbl F) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects.
• Methylmalonicaciduria, vitamin B12 unresponsive, mut 0: A metabolic disorder whose severity is somewhat variable - most patients die within months of birth with survivors having neurological problems. The condition involves abnormal metabolism of vitamin B12 which doesn't respond to treatment using vitamin B12 administration. This disorder is more severe than the mut (-) form
• Mevalonic aciduria: A rare disorder of amino acid metabolism characterized by a defect in the enzyme mevalonate kinase.
• Microcephaly - facial clefting - preaxial polydactyly: A very rare condition characterized by the presence of an abnormally small head, facial clefts and extra digits.
• Microphthalmia, syndromic 7: A rare genetic disorder characterized by eye and skin abnormalities involving irregular red streaks of skin on the head and neck.
• Microvillus Inclusion Disease: A rare, inherited, progressive intestinal disease where a defect in the intestinal wall results in severe diarrhea after birth.
• 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.
• Miescher's syndrome: A rare familial syndrome characterized by various abnormalities including failure to thrive, retarded growth, diabetes, skin lesions and facial anomalies. The condition is essentially Miescher syndrome associated with diabetes mellitus.
• Miller-Dieker syndrome: A rare genetic disorder characterized by a smooth brain surface. The condition occurs because of deletion of genetic material from the short arm of chromosome 17 ath a particular location (17p13.3).
• Milner-Khallouf-Gibson syndrome: A rare recessively inherited genetic disorder characterized by a variety of symptoms which are typical of a condition called Fanconi's anemia.
• Mitochondrial diseases, clinically indefinite: An inherited biochemical disorder which can affect many body systems such as the skeleton, heart, brain and nervous system.
• Monosomy 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted 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.
• 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 A: 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) needed to break it down.
• Mucolipidosis III: A rare metabolic disorder where deficiency of a particular enzyme leads to the buildup of mucopolysaccharides and mucolipids in the body which is harmful to the body and leads to premature death.
• Mucopolysaccharidosis 1: A rare inherited condition caused by the absence of certain lysosomal enzymes which are needed to break down mucopolysaccharides. Without these enzymes, mucopolysaccharides build up in various body organs and tissues which causes harmful effects. There are three subtypes of the condition: Hurler, Scheie and Hurler-Scheie with Hurler being the most severe and Scheie the mildest.
• 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 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 7 Sly syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (beta-glucuronidase) 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.
• Mulibrey Nanism syndrome: A very rare inherited malformation characterized by very small stature (dwarfism), pericardial constriction and yellow dots in fundus of the eye.
• Multiple congenital anomalies - mental retardation - growth failure and cleft lip/ palate: A very rare syndrome characterized mainly by mental retardation, growth failure, cleft lip, cleft palate and various other abnormalities.
• Multiple endocrine abnormalities - adenylyl cyclase dysfunction: A rare syndrome characterized by an enzyme defect (adenylyl cyclase) and a number of endocrine abnormalities.
• Multiple epiphyseal dysplasia: A rare genetic disorder characterized by short stature and limb, joint and hip abnormalities which become evident from two to 10 years.
• 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.
• Myhre Syndrome: A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features.
• Myopathy, congenital nonprogressive with Moebius and Robin sequences: A rare inherited disorder characterized by nonprogressive muscle weakness from birth as well as the Moebius (congenital facial palsy with impaired ability to move eyes) and Pierre Robin sequence (underdeveloped jaw, cleft soft palate, abnormal tongue position).
• NOMID syndrome: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
• Navajo neurohepatopathy: A rare genetic disease found in Navajo populations. It involves peripheral nerve degeneration, liver disease and corneal ulcers. The genetic disease is believed to be caused by maternal exposure to uranium from waters contaminated by old mines.
• Nephrogenic diabetes insipidus: A rare inherited condition where the kidneys can't concentrate the urine sufficiently which results in excessive urination and thirst. The condition occurs because the kidneys are unable to respond to the antidiuretic hormone.
• Nephropathic cystinosis: Cystinosis is a condition where excess amino acid cystine builds up to harmful levels in the body. The nephropathic form of cystinosis usually starts during infancy and can result in severe complications if untreated.
• Neuroblastoma, Susceptibility to: Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a neuroblstoma.
• Neuroblastoma, Susceptibility to, 1: Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a neuroblastoma. Type 1 is linked to a genetic defect on chromosome 1p36.
• Neuroblastoma, Susceptibility to, 2: Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a neuroblastoma. Type 2 is linked to a genetic defect on chromosome 4p12.
• Neuroblastoma, Susceptibility to, 3: Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a neuroblastoma. Type 3 is linked to a genetic defect on chromosome 2p23.
• Neuroblastoma, Susceptibility to, 4: Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a neuroblastoma. Type 4 is linked to a genetic defect on chromosome 6p.
• Neuroblastoma, Susceptibility to, 5: Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a neuroblastoma. Type 5 is linked to a genetic defect on chromosome 2q35.
• Neuroblastoma, Susceptibility to, 6: Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a neuroblastoma. Type 6 is linked to a genetic defect on chromosome 1q21.
• Neuronal Migration Disorders: Group of disorders caused by abnormal growth of nerves in the brain and head.
• Nezelof's syndrome: An immune deficiency disorder where the cells that normally fight infection don't work properly and patients suffer frequent severe infections.
• 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 A: 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 A is a severe infantile form in which death usually occurs by early childhood.
• Non-ketotic hyperglycinemia: A rare disorder of amino acid metabolism where glycine and proline are unable to be metabolized properly due to defects in the glycine cleavage system.
• Numbness of both elbows:
• Nutritional deficiency: Any deficiency of the nutrients that are required to sustain human life
• OFD syndrome type 8: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
• OFD syndrome type IX: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger and retinal abnormalities.
• Omenn syndrome: A rare inherited disorder of the immune system involving B and T lymphocytes and characterized by skin rash and frequent infections.
• Oncogenic hypophosphatemic osteomalacia: A rare condition where a mesenchymal tumor causes low blood phosphate levels. This affects bone mineralization resulting weak, fragile bones and other symptoms.
• Ornithine Transcarbamylase Deficiency: A rare metabolic disorder where a deficiency of the enzyme ornithine transcarbamylase means that nitrogen isn't removed from the body and builds up in the blood in the form of ammonia.
• Ornithine transcarbamylase (OTC) Deficiency: A rare metabolic disorder where a deficiency of the enzyme ornithine transcarbamylase means that nitrogen isn't removed from the body and builds up in the blood in the form of ammonia.
• Orotic aciduria hereditary: A rare metabolic disorder where an inherited enzyme deficiency (lack of orotidylic pyrophosphorylase and orotidylic decarboxylase or a lack of orotidylic decarboxylase only) impairs the body's ability to break down orotic acid which then builds up in the body and causes damage.
• Orotic aciduria purines-pyrimidines: An inborn metabolic error which results in excessive levels of orotic acid in the urine.
• Oroticaciduria 1: A rare metabolic disorder where deficiency of two enzymes (orotidylic pyrophosphorylase and orotidylic decarboxylase) which impairs the body's ability to break down orotic acid which then builds up in the body where it can cause damage.
• Orotidylic decarboxylase deficiency: A rare metabolic disorder where deficiency of an enzyme (orotidylic decarboxylase) which impairs the body's ability to break down orotic acid which then builds up in the body where it can cause damage.
• Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski: A very rare fatal disorder characterized by abnormal bone development and growth failure. Death occurs within the first year of life.
• Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
• Osteomalacia: Softening of bones caused by a vitamin D deficiency.
• Osteopetrosis - renal tubular acidosis: A rare disorder where increased bone density is caused by carbonic anhydrase II deficiency.
• Osteopetrosis lethal: A severe, lethal form of the brittle bone condition called osteopetrosis.
• Osteopetrosis with renal tubular acidosis: A rare disorder where increased bone density is caused by carbonic anhydrase II deficiency.
• Osteopetrosis, autosomal recessive 4: 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.
• Oto-Palato-digital syndrome type 1: A rare genetic disorder characterized by deafness, cleft palate, broad fingers and toes and short nails.
• Oto-palato-digital syndrome, type 2: A rare genetic disorder characterized by head, face, mouth and bone abnormalities.
• PEPCK 1 deficiency: A rare inherited disorder where deficiency of an enzyme (phosphoenolpyruvate carboxykinase-1) prevents fats and proteins being turned into glucose which causes various problems. In type 1, the enzyme deficiency occurs in the liquid part of the cells.
• PEPCK 2 deficiency: A rare inherited disorder where deficiency of an enzyme (phosphoenolpyruvate carboxykinase-2) prevents fats and proteins being turned into glucose which causes various problems. In type 2 the deficiency occurs in the mitochondrial part of the cell which is the energy conversion organelle in the cell.
• PFIC: A rare inherited condition where bile is unable to drain from the liver where it builds up and causes progressive liver damage. End-stage liver disease usually occurs before adulthood. There are three different subtypes of the disorder, each with a different genetic origin of the defect.
• 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.
• 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.
• Patent ductus arteriosus: patent ductus arteriosus (PDA) is a congenital heart defect wherein a child's ductus arteriosus fails to close after birth
• Pearson's anemia: Pearson's anemia is a rare progressive condition characterized by abnormal pancreatic functioning and sideroblastic anemia. Diagnosis usually occurs within the first 7 years of life and death in infancy is common.
• Pelizaeus-Merzbacher Disease: Rare brain myelin disorder.
• Pelizaeus-Merzbacher brain sclerosis: A degenerative brain disease involving deterioration of the brain white matter which affects motor and mental functioning.
• Pelizaeus-Merzbacher disease, recessive, acute infantile: A severe form of the degenerative brain disease involving deterioration of the brain white matter and resulting in impaired motor and mental functioning.
• Perinatal hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a severe deficiency of alkaline phosphate which results in death before or within days of birth.
• Periodic hyperlysinemia: A rare genetic disorder where the body lacks enzymes to metabolize lysine which then causes a harmful builds up of lysine and ammonia in the body.
• Pernicious Anemia, Juvenile type: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• 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.
• Phenylketonuria: A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase.
• Phocomelia syndrome: A rare condition involving a range severe birth defects that can occur genetically, spontaneously or due to use of certain drugs such as thalidomides during pregnancy.
• Phosphoenolpyruvate carboxykinase (PEPCK) deficiency: A rare inherited disorder where deficiency of an enzyme (phosphoenolpyruvate carboxykinase-1) prevents fats and proteins being turned into glucose which causes various problems. In type 1, the enzyme deficiency occurs in the liquid part of the cells and in type 2 the deficiency occurs in the mitochondrial part of the cell.
• Pierre Robin syndrome skeletal dysplasia polydactyly: A rare disorder characterized by the Pierre-Robin sequence (underdeveloped jaw, cleft soft palate and abnormal tongue location), extra fingers and skeletal abnormalities.
• Pierre Robin's sequence: A rare genetic disorder characterized by an underdeveloped jaw, cleft soft palate and abnormal tongue location.
• Pitt-Rogers-Danks syndrome: A rare genetic condition characterized by reduced fetal growth, mental retardation and distinctive facial features.
• 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.
• Polyendocrinopathy, immune dysfunction, and diarrhea, X-linked: A rare condition involving autoimmune problems which can variably manifest as enteropathy (diarrhea), hemolytic anemia, and endocrine gland diseases such as diabetes mellitus and thyroid disease. Resistance to viral infections is poor. The condition is life-threatening, especially during infancy and early childhood. As the condition is inherited in a X-linked manner, males tend to suffer severe symptoms whereas females suffer few if any symptoms as they are a carrier of the condition.
• Poor feeding: Poor feeding (mostly in infants)
• Poor growth: Poor body growth or delayed physical development.
• Posterior valve, urethra: A congenital defect where there is an abnormal membrane in the back of the male urethra which affects urine flow. The urine can flow back through the valve and cause problems for organs such as the urethra, bladder, ureters and even the kidneys. The severity of the condition is determined by the severity of the malformation. Severe defects can cause fetal death and mild defects may cause incontinence.
• Powell-Buist-Stenzel syndrome: A rare syndrome inherited in a X-linked manner and characterized by diarrhea, endocrine disease and severe infections during infancy which lead to death. The condition is possibly due to an overactive immune system.
• Prader-Willi syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and small hands and feet.
• Prednisolone - Teratogenic Agent: There is evidence to indicate that exposure to Prednisolone 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.
• Pregnancy symptoms: Symptoms related to pregnancy.
• Primary tubular proximal acidosis: A rare disorder where abnormal function of the proximal kidney tubules causes a buildup of acid in the body. The kidney abnormality is not due to any other disease, condition or injury.
• 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.
• Proximal Renal Tubular Acidosis: This is a condition that is characterised by a metabolic acidosis state caused by impairment of a persons renal function
• Pseudoobstruction idiopathic intestinal: A gastrointestinal disorder where the intestinal walls are unable to contract normally to move digested material through the system which produces symptoms similar to an obstruction in the intestinal tract.
• Pseudophosphatasia: A rare condition where infants have all the physical features of infantile hypophosphatasia but alkaline phosphatase activity is normal.
• Pulmonary alveolar proteinosis, congenital: A rare lung disease where protein and fat molecules accumulate in the distant parts of the lungs and affect breathing.
• Pulmonary artery coming from the aorta: A rare congenital heart defect which is usually fatal. The pulmonary artery is abnormally placed and comes out of the aorta.
• Pulmonary surfactant protein B, deficiency of: A rare lung disease where protein and fat molecules accumulate in the distant parts of the lungs and affect breathing. The disease is called by a deficiency of a the lung surfactant protein B.
• Pulmonary veins stenosis: A congenital malformation where the pulmonary veins are narrowed.
• Pyknodysostosis: A condition which is characterized by a hereditary syndrome of short stature, osteoporosis, and skeletal abnormalities
• Pyloric stenosis: Narrowed opening between stomach and intestines
• Pyloric stenosis, infantile hypertrophic, 1: A congenital anomaly where the pylorus is abnormally enlarged which narrows the opening and prevents food from emptying out of the stomach and into the intestines. Type 1 is linked to a defect in the NOS1 gene on chromosome 12q.
• Pyloric stenosis, infantile hypertrophic, 2: A congenital anomaly where the pylorus is abnormally enlarged which narrows the opening and prevents food from emptying out of the stomach and into the intestines. Type 2 is linked to a defect on chromosome 16p13-p12.
• Pyloric stenosis, infantile hypertrophic, 3: A congenital anomaly where the pylorus is abnormally enlarged which narrows the opening and prevents food from emptying out of the stomach and into the intestines. Type 3 is linked to a defect on chromosome 11q14-q22.
• Pyloric stenosis, infantile hypertrophic, 4: A congenital anomaly where the pylorus is abnormally enlarged which narrows the opening and prevents food from emptying out of the stomach and into the intestines. Type 4 is linked to a defect on chromosome Xq23.
• Pyridoxamine 5-prime-phosphate oxidase deficiency: A metabolic disorder involving a deficiency of an enzyme called 5-prime-phosphate oxidase. Symptoms start soon after birth and involves seizures and other anomalies.
• Pyruvate decarboxylase deficiency: A rare genetic disorder involving an enzyme (pyruvate decarboxylase) deficiency which results in symptoms such as failure to thrive, psychomotor retardation, small head, eye problems, increased blood ammonia levels and lactic acidosis which can result in infant death in severe cases.
• Ramon Syndrome: A rare genetic condition characterized by cherubism, enlarged gums, epilepsy, mental deficiency and excessive body hair (hypertrichosis).
• 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.
• 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 tubular acidosis, distal: A kidney disorder where the kidney is unable to effective 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 tubular acidosis, distal - type I: A kidney disorder where the kidney is unable to effective 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. Type I also involves potassium level abnormalities.
• Renal tubular acidosis, distal - type III: A kidney disorder where the kidney is unable to effective 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. Type III involves the potassium level abnormalities of type I as well as bicarbonate level abnormalities resulting from excessive bicarbonate removal from the blood at the proximal part of the kidney tubules.
• Renal tubular transport disorders, inborn: Genetic defects in the transporters and channels along the kidney tubules that help to regulate body fluids as well as defects in the receptors and enzymes involved in the process. Examples of such disorders include nephrogenic diabetes insipidus and hereditary renal hypouricemia. Symptoms are determined by the exact nature of the disorder.
• 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.
• Renpenning syndrome 1: A very rare genetic disorder that affects males and is characterized mainly by mental retardation and facial anomalies.
• Rhizomelic chondrodysplasia punctata, type 1: A rare genetic disorder involving abnormal development of bones which causes abnormal calcification of bones near the joints. The genetic defect is located on chromosome 6q22-q24.
• Rhizomelic chondrodysplasia punctata, type 3: A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (alkyldihydroxyacetonephosphate synthase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 2q31.
• Rieger Syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities.
• Ring chromosome r(2): A chromosomal disorder where a portion of chromosome 2 is deleted and the two ends rejoin to form a ring. The condition causes symptoms such as retarded growth (before and after birth), small head and internal organ defects.
• Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
• 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.
• Rumination disorder: A chronic eating condition where the stomach contents are regurgitated, rechewed and swallowed again. It tends to occur predominantly in infants, young children and people with mental impairment but it can occur in otherwise healthy individuals. Sufferers often try to hide their condition for fear of being diagnosed as having bulimia. The condition is often misdiagnosed as gastroparesis or bulimia. The regurgitation can occur as soon as the food is swallowed or even up to an hour after finishing eating.
• Rumination disorder, infants: A condition where the stomach contents are regurgitated, rechewed and swallowed again.
• SCID: Major failure of the immune system, usually genetic.
• SHORT Syndrome: 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.
• SIBIDS syndrome: A rare disorder characterized mainly by sulfur-deficient brittle hair as well as osteosclerosis.
• Saethre-Chotzen Syndrome: 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 brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
• Schinzel Giedion Syndrome: A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations.
• Schwartz-Jampel Syndrome: A rare genetic disorder characterized by myotonia, blepharophimosis and joint limitation.
• Seckle syndrome: A rare genetic disorder characterized by short stature, microcephaly and a prominent nose.
• Senior-Loken Syndrome: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease.
• Senior-Loken syndrome 1: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 1 is caused by a chromosomal defect on chromosome 2q13. End stage kidney disease usually occurs early in the second decade.
• Senior-Loken syndrome 3: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 3 is caused by a chromosomal defect on chromosome 3q22. This form generally has an early onset.
• Senior-Loken syndrome 4: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 4 is caused by a chromosomal defect on chromosome 1p36.
• Senior-Loken syndrome 5: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 5 is caused by a chromosomal defect on chromosome 3q21.1. This form generally has a later onset.
• Senior-Loken syndrome 6: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 6 is caused by a chromosomal defect on chromosome 12q21.3. End stage kidney disease usually occurs early in the second decade and vision impairment occurs by 3 years of age.
• Septo-Optic Dysplasia: A rare birth defect characterized by impaired vision and pituitary deficiency.
• 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.
• Severe combined immunodeficiency, X-linked: A rare inherited disorder where a genetic mutation results in a deficiency of normal lymphocytes which results in a poorly functioning immune system. Sufferers are prone to infections which would probably be harmless in people with fully functioning immune systems.
• Shaken Baby Syndrome: A condition caused by violent shaking of a baby.
• Sheffield syndrome: A rare disorder characterized by abnormal bone development involving stippled (speckled) calcification of growing ends of long bones. The main features of this disorder are retarded growth, facial anomalies and short end bones in fingers.
• Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD): A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy. Symptoms are exacerbated by fasting or acute illness. The severity of symptoms is variable with some patients remaining virtually asymptomatic their whole life while other suffer symptoms from infancy.
• Short stature: Smallness or shortness of stature.
• Short-Chain Acyl-CoA Dehydrogenase Deficiency: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy.
• Shwachman syndrome: A rare disorder where a pancreatic defect impairs digestive enzyme production and malfunction of the bone marrow produces blood abnormalities, particularly blood cells involved with fighting infection. These defects produce a range of symptoms as a result of malabsorption and poor ability to fight infections. Characterized by a lack of digestive enzymes and low immunity due to low leukocyte level.
• Sickle Cell Anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
• Sickle cell anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
• 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.
• Singleton-Merten Syndrome: A very rare disorder involving calcium abnormalities which affect the teeth, bones and blood vessels.
• Small baby: Small size of newborn baby
• Smith-Lemli-Opitz Syndrome: A rare genetic condition involving a severe defect in the process of cholesterol synthesis resulting in low cholesterol levels in cells but high levels of the chemicals that are made into cholesterol.
• Sonoda syndrome: An extremely rare disorder characterized by a congenital heart defect, round face, retarded development, short stature and various facial anomalies.
• Stanescu syndrome: A rare disorder involving abnormal bone and cartilage development
• Stimmler syndrome: A rare disorder characterized by dwarfism, diabetes, small head and high levels of alanine in the urine.
• Surfactant Metabolism Dysfunction: Surfactant metabolism dysfunction is a group of genetic conditions characterized by servere breathing problems or breathing failure in infants who were born at full term. A genetic defect results in a disruption of the lipids and proteins which reduced the surface tension in the lung alveoli and allows transfer of oxgent between the lungs and the blood supply.
• Surfactant Metabolism Dysfunction, Pulmonary, 1: Surfactant metabolism dysfunction is a group of genetic conditions characterized by severe breathing problems or breathing failure in infants who were born at full term. A genetic defect results in a disruption of the lipids and proteins which reduced the surface tension in the lung alveoli and allows transfer of oxgen between the lungs and the blood supply. Type 1 involves a defect in the pulmonary associated surfactant protein B (SFTPB) and due to a genetic anomaly located on chromosome 2p12-11.2.
• Surfactant Metabolism Dysfunction, Pulmonary, 2: Surfactant metabolism dysfunction is a group of genetic conditions characterized by severe breathing problems or breathing failure in infants who were born at full term. A genetic defect results in a disruption of the lipids and proteins which reduced the surface tension in the lung alveoli and allows transfer of oxygen between the lungs and the blood supply. Type 2 involves a defect in the pulmonary associated surfactant protein C (SFTPC) and due to a genetic anomaly located on chromosome 8p21.
• Surfactant Metabolism Dysfunction, Pulmonary, 3: Surfactant metabolism dysfunction is a group of genetic conditions characterized by severe breathing problems or breathing failure in infants who were born at full term. A genetic defect results in a disruption of the lipids and proteins which reduced the surface tension in the lung alveoli and allows transfer of oxgen between the lungs and the blood supply. Type 3 involves a defect on chromosome 16p13.3 which is believed to affect the secretion of surfactant.
• Systemic Juvenile Rheumatoid Arthritis: Onset of JRA with fevers and systemic symptoms
• T-cell immunodeficiency, congenital alopecia and nail dystrophy: A rare recessively inherited disorder characterized mainly by alopecia, abnormal nails and immunodeficiency (T-cell).
• Tarsal carpal coalition syndrome: A very rare syndrome characterized mainly by fused ankle and wrist bones.
• Tay Sachs Disease: A condition which is causes GM2 gangliosidosis
• Thinness: Underweight and thin
• Thyroid agenesis: A rare disorder where the thyroid fails to develop resulting in hypothyroidism from birth.
• Thyroid disease: Any medical condition which affects the thyroid
• Toni-Fanconi syndrome type 1:
• Tonsillitis: A condition which is characterized by inflammation of the tonsils
• Transposition of great arteries: A congenital malformation where the aorta and pulmonary artery are transposed which causes oxygenated blood from the lungs to be sent back to the lungs and de-oxygenated blood to be sent to body tissues. Often there is some other defect such as an opening in the heart chambers which allows mixing of the blood and hence survival is possible for a short while at least.
• Trichorhinophalangeal syndrome type 3: A rare inherited disorder involving hair, face, teeth, and bone abnormalities. The type and severity of symptoms is variable.
• 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 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 3 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 3 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.
• Tuberculosis: Bacterial infection causing nodules forming, most commonly in the lung.
• Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
• Type 1 diabetes: Severe insulin-treated diabetes typically occurring in young people.
• Tyrosinemia: A rare genetic metabolic disorder characterized by a deficiency of particular enzymes which prevents the breakdown of tyrosine which then builds up in the liver.
• UDP-Galactose-4-epimerase deficiency: A condition which is characterised by a mutation in the UDP-galactose-4-epimerase gene.
• 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.
• Urban Roger Meyer syndrome: A syndrome which is characterised by genital anomalies, mental retardation, and obesity
• Urea Cycle Disorders: Any disorder that affects the urea cycle.
• Urinary tract infection: Infection of the urinary tract
• Urinary tract infections: Infection of the urinary tract
• Urinary tract infections (child): Infection of the urinary system in children.
• Urocanase deficiency: A condition characterised by the deficiency of the urocanase enzyme
• VATER association: An association of congenital abnormalities that consists of vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia
• Vagneur Triolle Ripert syndrome: A condition that is characterised by lymphoedema of the lower extremities and recurrent respiratory system problems
• Valinemia: A very rare metabolic disorder where a deficiency of the enzyme valine transaminase results in increased blood and urine levels of the amino acid called valine.
• Valproic acid antenatal infection: A condition which usually occurs in a fetus due to the mother taking valproic acid for epileptic seizures
• Van Goethem syndrome: A syndrome which is characterised by multiple birth defects.
• Vasopressin-resistant diabetes insipidus: A condition which is characterised by normal renal filtration and solute excretion however there is a persistent hypotonic urine
• 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.
• Ventricular septal defect: An abnormal connection between the 2 lower chambers (ventricles) of the heart.
• Ventriculo-arterial discordance, isolated: A rare birth disorder where the right atrium is connected to the left ventricle and vice versa. The position of the heart ventricles is also inverted which allows normal blood oxygenation. Symptoms generally only occur later in life or if other heart defects are present which is usually the case.
• Vipoma: A rare disorder caused by an increase in secretion of vasoactive intestinal peptide by the pancreas. The syndrome is often caused by an islet-cell tumor (except for beta cells) in the pancreas.
• Visceral neuropathy, familial, autosomal dominant: A dominantly inherited gastrointestinal disorder where the intestinal walls are unable to contract normally to move digested material through the system which produces symptoms similar to an obstruction in the intestinal tract.
• Vitamin D resistant rickets: A form of rickets that is caused by Vitamin D resistance
• Vitamin deficiency: When there is any deficiency of vitamins in the body
• Vomiting: Vomiting or retching symptoms.
• Von Gierke disease IA: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to convert it to a sugar and use it to create energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.
• Von Gierke disease IB: A metabolic disorder involving a deficiency of glucose-6-phosphatase (due to a G6P transporter defect) which results in the accumulation of glycogen in various tissues and a reduced blood sugar level. The condition is characterized primarily by an increased risk of bacterial infections due to impaired neutrophil activity which is needed to fight bacterial invasions.
• WAGR Syndrome: A syndrome that is due to the deletion of chromosome 11.
• Watson syndrome: A rare syndrome characterized by short stature, reduced intelligence, café au lait spots and narrowing of pulmonary valves.
• Weaver Syndrome: A syndrome that is considered a variant of the Marshall-Smith syndrome
• Weight loss: Loss of body weight.
• Weight symptoms: Symptoms related to body weight.
• Weill-Marchesani Syndrome:
• Weismann-Netter-Stuhl Syndrome: A very rare inherited disorder characterized by bone development abnormalities.
• Werner syndrome: A form of premature aging where sufferers start aging during adolescence or soon after and appear old by the time they reach their 30's or 40's. Milder forms of the condition may also occur.
• Williams Syndrome: A syndrome characterised by mental retardation, facial abnormalities and emotional instability
• 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
• Wolcott-Rallison syndrome: A very rare genetic condition characterized primarily by the onset of diabetes mellitus during infancy and epiphyseal dysplasia (abnormal joint development).
• Wolf-Hirschhorn Syndrome: A syndrome which is caused by a partial deletion of the short arm of chromosome 4.
• Wolf-Hirschorn syndrome: A syndrome characterised by the partial deletion of the short arm of chromosome 4
• Wolman Disease with Hypolipoproteinemia and Acanthocytosis: A very rare condition characterized by the symptoms of Wolman disease (lipid malabsorption, vomiting, growth failure, adrenal calcification) and low blood lipoprotein levels and acanthocytosis.
• Wolman disease: A rare inherited lipid storage disease. The condition usually results in death early in life.
• Wolman syndrome: A form of lipoidosis where acid cholesteryl ester hydrolase deficiency causes an accumulation of lipids (particularly cholesterol esters and triglycerides) in tissues and organs.
• Woods Leversha Rogers syndrome: A condition which is characterised by severe intrauterine growth retardation with an increase in the sensitivity to mitomycin C sensitivity
• Worm conditions: Any condition that is caused by infestation of worms
• Wrinkly skin syndrome: A very rare genetic disorder characterized by wrinkly skin that occurs primarily on the palms and soles but can occur on other parts of the body. The condition is also associated with various other abnormalities.
• Wyburn Mason's syndrome: A rare genetic condition mainly involving enlarged brain blood vessels and skin and eye abnormalities.
• X fragile site folic acid type: A fragile X syndrome that is characterised by mental retardation and developmental delay
• X-linked alpha thalassemia mental retardation syndrome (ATR-X): An x-linked condition that features mental retardation, dysmorphic features, and alpha thalassemia
• XX male syndrome: A sex chromosome disorder in males which affects gonadal development and causes infertility. Males have XX chromosomes instead of the normal XY.
• Xanthine oxydase deficiency: The deficiency of an enzyme that is involved in the degradation of purine
• Xanthinuria: A hereditary condition that is characterised by a disorder of purine metabolism
• Young Hughes syndrome: A sex linked condition that is characterised by mental retardation and hypogonadism
• Yunis Varon syndrome: A multisystem genetic disease that affects the skeletal system in particular
• ZAP70 deficiency: A condition characterised by a deficiency of the Zap70 tyrosine kinase which is a component
• 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.
• Zinc deficiency: When there is a deficiency of zinc in an individuals body

Rate This Website

What do you think about the features of this website? Take our user survey and have your say:

Website User Survey

Medical Tools & Articles:

Next articles:

• Disease Center Information
• Surveys
• Join in at the forums

Tools & Services:

• Bookmark this page
• Surveys relating to Failure to thrive
• Symptom Search
• Symptom Checker
• Medical Dictionary
• Give your feedback

Medical Articles:

• Disease & Treatments Search
• Misdiagnosis Center
• Full list of interesting articles

Forums & Message Boards

• Ask or answer a question at the Boards:
• I cannot get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for my condition?
• See all the Boards.

Enter your search terms Submit search form
Search The Web Search wrongdiagnosis.com