Glossary for Pregnancy symptoms

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

• $11q Partial Trisomy$: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
• $2q22-q24 deletion$: A rare chromosomal disorder where part of the long arm (q22-q24) 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.
• $49,XXXXY syndrome$: A rare sex chromosome abnormality where there are three extra copies of the X chromosome.
• AREDYLD: A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes.
• Aase-Smith I syndrome: A very rare hereditary syndrome characterized by deformities such as joint contractures, anemia, hydrocephalus and cleft palate.
• Abortion: The loss of an intrauterine pregnancy prior to viability of the fetus.
• Abruptio placentae: A condition which is characterized by the premature detachment of the placenta from the uterus
• Achondrogenesis: A type of dwarfism where the main limbs are short and the head and trunk are hydropic (contain an accumulation of clear fluid).
• Achondrogenesis type 1A: A rare genetic disorder characterized by abnormal cartilage formation and growth of bones. Type 1A differs from other types by the origin of the genetic defect. Type 1A involves abnormal cartilage-forming cells (chondrocytes) whereas type 1B involves an abnormal cartilage matrix. Type 1B is the most severe disorder.
• Achondrogenesis type 1A and 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
• Achondrogenesis type 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
• Achondrogenesis type 2: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• Achondrogenesis, Langer-Saldino Type: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• Achondrogenesis, type 3: Severely abnormal bone development which invariably results in death before or soon after birth. Type III may actually be a part of achondrogenesis type II.
• Acrofacial dysostosis Catania form: One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare.
• Acrofacial dysostosis Preis type: One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable.
• Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
• Acrofacial dysostosis, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
• Acrorenal syndrome: A rare lethal syndrome characterized limb anomalies and kidney malformations.
• Acrorenal syndrome recessive: A rare, recessively inherited disorder characterized by the association of kidney and hand and foot abnormalities.
• Agnathia-holoprosencephaly-situs inversus: A very rare disorder characterized by a small or absent jaw, developmental brain defect and internal organs situated on the wrong side of the body (situs inversus). The severity and range of symptoms is variable.
• Al Awadi syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis.
• Al Awadi-Raas-Rothschild syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis. The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related.
• Al Gazali Hirschsprung syndrome: A rare disorder characterized by Hirschsprung disease (an intestinal disorder), nail abnormalities and facial anomalies.
• Allanson-Pantzar-McLeod syndrome: A rare genetic disorder where abnormal development of kidney tubules results in severe kidney problems that start during the fetal stage.
• Amphetamine abuse: Use of the stimulant drugs known as amphetamines or "speed"
• Analgesic syndrome: The use of large quantities of pain-killer drugs can sometimes cause serious kidney damage as well as various other problems.
• Anemia of pregnancy: Anemia of pregnancy is anemia that occurs during pregnancy. Women's bodies have a greater demand for iron during pregnancy and if intake is not sufficient, anemia can result. Anemia in pregnant women can lead to infant problems such as premature birth, fetal death, retarded growth and other problems.
• Anemia, Blackfan Diamond: 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.
• Anencephaly: A birth defect where large parts of the brain is missing and the brainstem is malformed.
• Anencephaly and spina bifida X-linked: A severe X-linked malformation syndrome involving anencephaly where a part or all of the brain and associated skull is missing as well as a defect or opening in the spinal column.
• Angelman-Like Syndrome, X-linked: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Ankylosis - facial anomalies - pulmonary hypoplasia syndrome: A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs.
• Anophthalmia - hypyothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
• Anophthalmia - megalocornea - cardiopathy - skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
• Anorectal atresia: Congenital malformation where the anal or rectal opening is obstructed. The malformation is often associated with other abnormalities.
• Antiphospholipid syndrome: An autoimmune disorder characterized by blood clots and pregnancy losses.
• Aorto-ventricular tunnel: A rare heart defect where a tunnel from between the ascending aorta and the cavity of the left or sometimes right heart ventricle. The severity of the condition is highly variable from asymptomatic for many years to fetal death. Often other heart anomalies are also associated.
• 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.
• Arthrogryposis - renal dysfunction - cholestasis syndrome: A very rare syndrome characterized by joint contractures, kidney dysfunction and liver problems.
• Arthrogryposis multiplex congenita - pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Asthma in pregnancy: Asthma in pregnancy refers to inflammation and constriction of the airways that is occurs during pregnancy. Women who are pregnancy may decide to stop taking their asthma medication in order to reduce the perceived risk of side effects to the developing fetus. The reality is that the potential harmful effects on the fetus are very small compared to the problems caused to mother and fetus if a severe asthma attack develops. Furthermore, uncontrolled asthma during pregnancy may also cause problems such as small birth weight or premature birth. Pregnant women should consult their physician in order to determine the optimal management of their condition. During pregnancy, asthma symptoms may become worse, improve or stay the same.
• Astley-Kendall syndrome: A very rare syndrome involving abnormal skeletal development and resulting in short limbs, fragile bones and cartilage abnormalities. The condition generally results in stillbirth or death during early infancy.
• Ataxia - diabetes - goiter - gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Atelosteogenesis, type 2: A very rare inherited skeletal disorder involving the bone and cartilage and resulting in various bone abnormalities.
• Ballantyne-Runge syndrome: A pregnancy that goes over the normal gestation term of 42 weeks. The greatest problem with prolonged gestation is the fact that the placenta may shrink and be unable to supply the fetus with sufficient oxygen and nutrients. In extreme cases, the fetus may lose weight or suffer problems from chronic oxygen shortage.
• Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Bartsocas Papa syndrome: A rare condition characterized by webbing of skin as well as various other physical and mental abnormalities.
• Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.
• 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.
• Ben-Ari-Shuper-Mimouni syndrome: A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder.
• Berlin Breakage syndrome: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. The features of this condition are virtually indistinguishable from the Nigmegen Breakage syndrome.
• Bilateral renal agenesis dominant type: A rare birth defect where both kidneys are absent. The disorder results in death within days of birth.
• Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Birth symptoms: Symptoms related to childbirth.
• Bleeding symptoms: Any type of bleeding symptoms.
• Blepharophimosis - nasal groove - growth delay: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
• Blepharophimosis - nasal groove - growth retardation: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
• Blomstrand syndrome: A rare lethal congenital condition characterized by abnormal bone development.
• Bone dysplasia, lethal, Holmgren type: A rare lethal bone malformation syndrome.
• Bowen-Conradi Syndrome: A very rare inherited disorder characterized by low birth weight, small head, facial anomalies and failure to thrive.
• Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and: A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of upper lip.
• Branchio-Oculo-Facial Syndrome: A rare genetic disorder characterized by branchial defects, lacrimal duct obstruction and pseudocleft of upper lip.
• Bébé Collodion syndrome: A rare birth abnormality where an infant is born covered in a tight, yellow, shiny membrane. The membrane peels off and may reform several times. As the membrane dries it can leave crack which can result in infection, dehydration or inability to control body temperature. The tight skin can also affect breathing and feeding ability or impair blood supply to limbs. In mild cases the underlying skin may be normal. 10% of cases resolve themselves within a few weeks of birth.
• CAMFAK syndrome: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature.
• Calcitriol - Teratogenic Agent: There is strong evidence to indicate that exposure to Calcitriol 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.
• Campomelia Cumming type: A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after.
• Camptodactyly syndrome, Guadalajara type 1: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.
• Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called cytochrome C oxidase (COX) which is needed in the process of energy production by body cells. The fatal infant type generally affects the hear, brain and kidneys as well as the muscles.
• Cataract and cardiomyopathy: A rare syndrome characterized by the association of congenital cataracts, heart muscle disease, lactic acidosis and skeletal muscle disease. The disorder involves the abnormal storage of lipids and glycogen in the skeletal and heart muscles. The cataracts progress rapidly and require surgery. The severity of the disorder ranges from stillbirth to survival into the fourth decade.
• Caudal appendage - deafness: A very rare syndrome characterized mainly by deafness, finger bone abnormalities and a spinal extension giving a tail-like appearance (caudal appendage).
• Celiac Disease: Digestive intolerance to gluten in the diet.
• Cervical Teratoma: A cervical teratoma is a very rare form of germ cell tumor that occurs in the neck. These tumors usually develop in the fetus and tend to be large and benign even though they grow continually. In rare cases they can occur in adults in which case they tend to be malignant. These tumors can be quite large and cause problems in other neck structures. Sometimes surgery is required in the uterus or during delivery in order to ensure the infant has access to an airway.
• Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
• Chlamydia: Common sexually transmitted disease often without symptoms.
• Chondrodysplasia punctata lethal neonatal: A rare skeletal disorder which results in the infant's death before or soon after birth. Symptoms include a variety of severe skeletal abnormalities and an enlarged head.
• 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.
• 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.
• Choriocarcinoma: Rare cancer of the placenta
• Chromosome 1 ring: A rare chromosomal disorder where the ends of chromosome 1 are deleted and the chromosome rejoins to form a ring. The disorder is characterized by mental and physical development delay, short stature and low birth weight.
• Chromosome 1, Partial Trisomy: A rare genetic disorder where part of the genetic material from chromosome 1 is duplicated so there are three copies in the body's cells rather than the normal two copies. The type and severity of symptoms is variable depending on the size and location of the genetic material duplicated.
• Chromosome 1, duplication 1p21 p32: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as short stature, newborn or fetal death, small head, undescended testes and various facial abnormalities.
• Chromosome 1, monosomy 1q32 q42: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as fetal or newborn death, facial dysmorphism, short stature, finger defects and various other anomalies.
• Chromosome 1, pter-p36: A very rare chromosomal disorder where the end portion of the short arm of chromosome 1 is missing. The type and severity of symptoms is variable.
• Chromosome 1, trisomy 1q32 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities.
• Chromosome 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 10, trisomy 10pter p13: A rare chromosomal disorder where duplication of a portion of chromosome 10 causes various abnormalities such as a wasted build, gut and heart placement abnormalities and lack of reflexes.
• Chromosome 10p terminal deletion syndrome: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
• Chromosome 11, Partial Trisomy 11q: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
• 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 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 16, uniparental disomy: A rare chromosomal disorder where an extra copy of chromosome 16 is inherited from one parent only.
• 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 2, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
• Chromosome 20, trisomy: A rare chromosomal disorder where there are three copies of chromosome 20 rather than the normal two which results in severe abnormalities and death.
• 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 21, monosomy 21q22: A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted.
• 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 3/B translocation: A rare chromosomal disorder involving a translocation of genetic material of chromosome 3.
• Chromosome 6p partial duplication: A rare chromosomal disorder involving duplication of part of the short arm (p) of chromosome 6 resulting in various abnormalities depending on the amount and location of the duplicated genetic material.
• Chromosome 9, trisomy 9q32: A rare chromosomal disorder where duplication of a portion of chromosome 9 causes various abnormalities such as short stature and mental retardation and facial anomalies.
• Chromosome conditions: Various genetic conditions where a chromosome is partially or totally misplaced.
• Cigarette Smoking - Teratogenic Agent: There is strong evidence to indicate that cigarette smoking 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.
• Classical Potter syndrome: A term that describes the physical appearance that occurs when kidney disease results in a reduced volume of amniotic fluid. In the classical type, both kidneys are absent.
• Cocaine fetopathy: Cocaine use during pregnancy resulting in various birth defects and other abnormalities.
• Cohen Syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth.
• Colavita-Kozlowski syndrome: A very rare syndrome characterized by dwarfism and resulting in death at birth or in the weeks following birth.
• 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 Toxoplasmosis: Fetal infection with toxoplasmosis.
• Congenital cardiovascular malformations: The abnormal development of heart blood vessels. Specific examples of this condition includes hypoplastic left heart syndrome, coarctation and tricuspid atresia.
• 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 1/IIX: 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 I/IIX refers to cases where the specific abnormality cannot be determined.
• 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 vaccinia: Congenital vaccinia is where the fetus becomes infected with vaccinia. This can occur when vaccination is administered during pregnancy - vaccination during the third trimester appears to be the most likely to result in fetal infection. The newborn is born with severe skin lesions and death generally occurs before or soon after birth.
• 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.
• Corneodermatoosseous syndrome: A very rare syndrome characterized mainly by thick, scaly skin on the palms and soles, corneal changes and dental problems.
• Corpus callosum agenesis double urinary collecting: A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder.
• Corpus callosum agenesis double urinary collecting system and trigonocephaly: A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder.
• Craniomicromelic syndrome: A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth.
• 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.
• Cystic adenomatoid malformation of lung: A rare birth condition where the lungs fail to develop normally during the fetal stage and cysts form in parts of the lung instead of normal alveolar tissue.
• Cystic hygroma, lethal - cleft palate: A very rare lethal syndrome characterized mainly by cysts that form in the lymphatic system as well as an opening in the palate (cleft palate).
• Czeizel syndrome: A rare lethal syndrome characterized by cleft palate, uterus abnormalities and omphalocele (protrusion of abdominal organs such as intestine through the navel).
• De Lange 1: A rare disorder involving a variety of congenital abnormalities including retarded growth, behavioral problems, characteristic facial features and upper limb abnormalities.
• Deafness - goiter - stippled epiphyses: A congenital metabolic disorder where the body fails to respond to thyroid hormone even though there is sufficient quantities of the hormone.
• Decreased folate: Decrease in one of the B vitamins required for red blood cell production
• Del(1) (23-q25): A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing.
• Deletion 10pter: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
• Deletion 10q: A rare disorder caused by the deletion of a portion of chromosome 10q. The range and severity of symptoms is determined by the size of the portion that is deleted.
• Deletion 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
• 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.
• Diabetes mellitus, transient neonatal: A form of infant diabetes that starts usually in the month of life but then usually disappears within a year. The condition predisposes the infant to diabetes later in life.
• 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.
• Diethylstilbestrol: A synthetic nonsteroidal estrogen
• Diethylstilbestrol antenatal infection: A very rare syndrome characterized mainly caused by exposure to diethylstilbestrol (used to prevent complications during pregnancy such as miscarriage and prematurity) during pregnancy
• Diffuse neonatal hemangiomatosis: A very rare syndrome characterized mainly by multiple capillary hemangiomas as well as other abnormalities.
• Digitorenocerebral syndrome: A very rare syndrome characterized by numerous abnormalities involving the brain, kidneys, fingers, toes, nails and face as well as mental retardation and vision impairment.
• Diphallus - rachischisis - imperforate anus: A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae.
• Distal Trisomy 11q: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
• Dubowitz Syndrome: A rare genetic and developmental disorder characterized by infantile eczema, small stature, microcephaly and peculiar facial features.
• Dup (1) (q23-qter) and del (3)(pter-p25): A very rare chromosomal disorder where a portion of the long arm (q23-qter) of chromosome one and the short arm of chromosome 3 (pter- p25) is duplicated. In the reported case, the infant died soon after birth.
• Dup (1) (q25-qter) and del (18p): A very rare chromosomal disorder (single reported case) where the end portion of the long arm (q25-qter) of chromosome one is duplicated and the short arm of chromosome 18 is missing.
• Dup(1) (q24-q31.2): A very rare chromosomal disorder where a portion of the long arm (q24-q31.2) of chromosome one is duplicated. In the reported case, death occurred within hours of birth.
• 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.
• Dysgnathia complex: A very rare disorder characterized by a small or absent jaw, ear abnormalities and a small mouth and tongue. The severity and range of symptoms is variable.
• Dysplastic cortical hyperostosis: A very rare syndrome characterized mainly by abnormal bone and brain development.
• EDS V: A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility.
• Eclampsia: serious complication of pregnancy and is characterised by high blood pressure and convulsions
• Ecstasy abuse: Use of the illicit drug called ecstasy
• Ectopic pregnancy: The occurrence of a pregnancy outside that of the uterus
• 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.
• Ehlers danlos syndrome: An inherited disorder of the connective tissue causing it to become weak and fragile. Connective tissue is found in skin, muscles, tendons and ligaments and hence all of these may be affected by weakness
• Ehlers-Danlos syndrome Type I: A rare genetic connective tissue disorder characterized by hyperextensible joints, hyperextensible skin and poor wound healing.
• Ehlers-Danlos syndrome type II: A rare genetic connective tissue disorder characterized by hypermobile joints, hyperextensible skin and poor wound healing - a milder form of Type 1 with hypermobility limited to hands and feet.
• Ehlers-Danlos syndrome type V: A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility.
• Elliptocytosis 1: An inherited blood disorder where a significant number of red blood cells (erythrocytes) are elliptical or oval shaped rather than doughnut shaped. Anemia results when the abnormal red blood cells are destroyed. The severity of the anemia is variable with some cases resulting in fetal death and others being relatively asymptomatic. Type 1 is caused by a defect in the gene on chromosome 1p36.2-p34 for a protein in the red cell membrane.
• Ellis-Yale-Winter syndrome: A rare condition characterized by the association of a small head, congenital heart disease, lung segmentation defects and a missing kidney.
• 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.
• Emerinopathy: A rare, progressive muscle disease that starts during childhood and involves muscle weakness and wasting.
• Endometrial conditions: Conditions that affect the female endometrium that is located in the uterus
• Epiphyseal stippling syndrome - osteoclastic hyperplasia: A rare syndrome characterized by abnormal bone development primarily affecting the long bones and lower spine.
• Esophageal Atresia and/or Tracheoesophageal Fistula: A rare condition characterized by an underdeveloped esophagus where the esophagus is not connected to the stomach. An abnormal opening between the trachea and esophagus may or may not also be present. The two abnormalities usually occur together.
• Esophageal atresia with tracheoesophageal fistula: A rare condition characterized by an abnormal opening between the trachea and esophagus as well as an underdeveloped esophagus where the esophagus is not connected to the stomach.
• Exencephaly: A rare, fatal birth defect where parts of the skull bones are missing causing the brain to protrude.
• Eye defects - arachnodactyly - cardiopathy: A rare syndrome characterized mainly by eye defects, long, thin fingers and heart disease.
• Faciocardiomelic dysplasia, lethal: A very rare lethal syndrome characterized by facial, heart and skeletal abnormalities.
• 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.
• Factor XIII Deficiency: A very rare inherited or acquired blood disorder caused by a deficiency of Factor XIII which is involved in stabilizing blood clot formation. The condition manifests as bleeding problems.
• Factor XIII deficiency, congenital: A very rare inherited blood disorder caused by a deficiency of Factor XIII which is involved in stabilizing blood clot formation. The condition manifests as bleeding problems.
• Factor XIII, A1 subunit Deficiency: A very rare inherited or acquired blood disorder caused by a deficiency of subunit A of Factor XIII which is involved in stabilizing blood clot formation. The condition manifests as bleeding problems.
• Factor XIII, B subunit Deficiency: A very rare inherited or acquired blood disorder caused by a deficiency of subunit B of Factor XIII which is involved in stabilizing blood clot formation. The condition manifests as bleeding problems.
• Familial intestinal polyatresia syndrome: A rare birth malformation where the intestines are closed off or absent.
• Familial visceral myopathy: A rare condition where the duodenum is dilated and the muscles don't function normally which affects the movement of digestive waste material through the intestines. The symptoms of the condition are similar to that caused by an intestinal obstruction.
• Female pseudohermaphrodism - anorectal anomalies: A very rare disorder characterized by ambiguous external genitals and anal and rectal anomalies.
• Female reproductive toxicity: There is mounting evidence which indicates that exposure to certain agents may produce adverse reproductive or fetal developmental effects. The possible range of effects includes reduced fertility, low birth weight, childhood cancer, spontaneous abortion and birth defects. Agents which may be implicated in these adverse effects includes anticancer drugs, carbon disulfide, carbon monoxide, lead, pesticides, organic solvents and tobacco smoke.
• Female reproductive toxicity - Cadmium: There is some evidence which indicates that some women exposed to cadmium may suffer adverse effects as a result. Low birth weight is a possible adverse effect.
• Female reproductive toxicity - Dioxins: There is limited conflicting evidence which indicates that some women exposed to dioxins may suffer adverse effects as a result. Spontaneous abortion and menstrual disorders and birth defects are the possible adverse effects.
• Female reproductive toxicity - Ethylene Oxide: Exposure to Ethylene Oxide, a recognized reproductive toxicant, can negatively affect the female reproductive system. Ethylene Oxide is used in pesticides as well as disinfectants. The severity and nature of the adverse effect is variable and can be influenced by factors such as level of exposure and individual sensitivity to the chemical. Effects on the female reproductive systems can include such things as menstrual problems, altered sexual behavior, infertility, altered puberty onset, altered length of pregnancy, lactation problems, altered menopause onset and pregnancy outcome.
• Female reproductive toxicity - Pesticides: There is limited evidence which indicates that some women exposed to pesticides may suffer adverse effects as a result. Spontaneous abortion, infertility, menstrual disorders and birth defects are possible adverse effects. Generally, adverse effects are only likely to occur with chronic exposure such as occurs in occupational settings e.g. farm workers.
• Female reproductive toxicity - Polychlorinated biphenyls (PCBs): There is limited conflicting evidence which indicates that some women exposed to Polychlorinated biphenyls may suffer adverse effects as a result. Low birth weight, hyperpigmentation and menstrual disorders are possible adverse effects and are generally only considered possible in cases of chronic exposure.
• Fetal PCB syndrome: A condition that occurs in infants born to mothers exposed to PCB (polychlorinated biphenyl) during pregnancy. The chemical is believed to affect calcium metabolism. In 1968 many cases occurred in Japan following consumption of cooking rice oil contaminated with PCB.
• Fetal akinesia syndrome, X-linked: A rare syndrome where the fetus is unable to move or has reduced mobility due to brain defects.
• Fetal alcohol syndrome: A condition which occurs in a new born fetus and is caused by the mother consuming excess alcohol during her pregnancy
• Fetal indomethacin syndrome: Fetal exposure to indomethacin which is a nonsteroidal anti-inflammatory drug. The drug can pass through the placenta from the mother to the baby and cause various problems depending on what stage of development the fetus is at.
• Fetal left ventricular aneurysm: A rare disorder where the fetus has a dilated ventricle on the left side of the heart. Severity of the defect is variable with some cases being asymptomatic and in other heart failure occurs during the fetal stage.
• Fetal warfarin syndrome: A rare disorder caused by fetal exposure to warfarin (anticoagulant) and resulting in physical, neurological and mental abnormalities.
• Fibular aplasia - ectrodactyly: A very rare syndrome characterized mainly by various bone abnormalities involving the arms and feet.
• 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.
• Food poisoning: Poisoning from a substance or microbe in food.
• Francois dyscephalic syndrome: A rare genetic disorder characterized by very small stature, microphthalmia, small pinched nose and hypotrichosis.
• Fraser Syndrome: A rare disorder characterized by the absence of one or both eyes as well as any of a number of other possible congenital abnormalities. Up to half of cases are stillborn.
• Fraser-like syndrome: A very rare syndrome characterized by fused eyelids, airway anomalies, cysts in the ovaries and finger and toe abnormalities.
• Freeman-Sheldon Syndrome: A very rare genetic disorder characterized by abnormal development of the skeleton and muscles.
• Fried-Goldberg-Mundel syndrome: A rare syndrome characterized mainly by leg malformations and an abnormally positioned urethral opening (hypospadias) in males.
• Frontonasal dysplasia - phocomelic upper limbs: A very rare syndrome characterized mainly by short arms, facial anomalies and various other abnormalities.
• Gaucher disease - perinatal lethal form: A rare syndrome characterized by the association of abnormally tight skin and Gaucher disease which is a lipid storage disease. This is the most severe form of Gaucher disease.
• Gay-Feinmesser-Cohen syndrome: A very rare syndrome characterized mainly by short stature, congenital heart disease and an abnormal membrane of tissue across the larynx.
• 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.
• Generalized pustular psoriasis of pregnancy: A form of psoriasis that occurs during the third trimester of pregnancy and is characterized by pustules rather the skin bumps. The skin under and around the pustules is red and variable areas of skin may be involved. The pustules tends to occur in localized areas and then spreads to other parts of the body. It usually tends to recur during following pregnancies or with subsequent use of oral contraceptives.
• Genital herpes: Sexually transmitted infection of the genital region.
• Gestational diabetes: The occurrence of diabetes that's onset occurs during pregnancy
• Gloomy 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.
• Gms syndrome: A rare syndrome characterized by mental retardation, short stature and an eye abnormality.
• Graves disease: A condition which is an autoimmune disease that affects the thyroid resulting hyperthyroidism
• Grebe Syndrome: A rare genetic disorder characterized by very short limbs and extra fingers and toes.
• Gum symptoms: Dental symptoms affecting the gums
• HEC syndrome: A very rare syndrome characterized mainly by excess fluid inside the skull, cataracts and thickening of the heart.
• HEM dysplasia: A rare disorder characterized by hydrops, dwarfism and abnormal bone calcification. The condition generally results in fetal death.
• Habitual abortion: The occurrence of two or more spontaneous abortions in a row. The condition may result from severe fetal abnormality, endocrine disorders, severe kidney problems, structural defects of the cervix or uterus or immune problems.
• Harlequin type ichthyosis: A very rare genetic skin disorder where a newborn is covered with large plates of thick skin that cracks and splits.
• Harper dwarfism: A rare inherited disorder involving a range of abnormalities. It is a variant of the Seckel syndrome.
• Hashimoto's thyroiditis: A progressive disease of the thyroid which leads to degeneration and hypothyroidism
• Heart defects - limb shortening: A very rare syndrome characterized mainly by short limbs and heart defects.
• Heart disease: Any disease that affects that heart but particularly relating to its own blood supply
• Hemolytic anemia, lethal - genital anomalies: A very rare syndrome characterized mainly by genital abnormalities and hemolytic anemia which often causes death.
• Hepatitis C Vaccine - Teratogenic Agent: There is evidence to indicate that exposure to Hepatitis C Vaccine 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.
• Hepatoblastoma: A primary malignant liver tumor which is rare in infants and children.
• Hereditary hypothyroidism: Hereditary hypothyroidism is a condition in which there is a defect in the thyroid gland which leads to increased production of TSH reduced production of thyroid hormone.
• Herpes virus antenatal infection: Transmission of the herpes virus from the mother to the baby during the fetal stage.
• Herpetic embryopathy: Transmission of the herpes virus from the mother to the baby during the fetal stage.
• Herrmann-Opitz craniosynostosi: A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance.
• Holoprosencephaly: A rare disorder where abnormalities of the fetal forebrain development lead to various birth defects.
• Holoprosencephaly - caudal dysgenesis: A very rare syndrome where the tailbone and the portion above the tailbone (coccyx and sacrum) fail to develop. The brain also fails to divide into two lobes resulting in a single-lobed brain
• Holoprosencephaly - ectrodactyly - cleft lip/palate: A very rare syndrome characterized mainly by a cleft hand, lip and/or palate and the failure of the brain to separate into two lobes.
• Holoprosencephaly deletion 2p: A very rare syndrome characterized mainly by the failure of the brain to separate into two lobes, facial deformities and various other anomalies.
• Hoyeraal-Hreidarsson syndrome: A very rare syndrome characterized mainly by retarded growth, a small head, anemia, immunodeficiency and an underdeveloped brain (cerebellum).
• Human parvovirus B19 infection - fetal: Fetal infection with human parvovirus B19.
• Hurst-Hallam-Hockey syndrome: A group of malformation described in a stillborn infant. Defects include leptomeningeal angiomatosis (abnormal blood vessels in sheath surrounding brain and spinal cord), heart disease, cleft lip and palate and brain abnormalities.
• Hydatidiform mole: A rare condition where an abnormal union between an egg and a sperm results in the formation of grape-like cysts instead of a baby. The growth is not malignant.
• Hydralazine Hydrochloride - Teratogenic Agent: There is evidence to indicate that exposure to Hydralazine Hydrochloride (an antihypertensive drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Hydrocephaly corpus callosum agenesis diaphragmatic hernia: A very rare syndrome characterized mainly by a buildup of fluid inside the skull, abnormal brain development (corpus callosum) and a diaphragmatic hernia.
• Hydrops fetalis syndrome due to Beta-thalassemia: Abnormal accumulation of fluid in the fetus which can be fatal. The condition is caused by a blood abnormality (absence of Beta-globulin genes - Beta-thalassemia).
• Hyperinsulinemic hypoglycemia, familial, 1: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF1 is due to a mutation in the gene for SUR1 (surfonlyurea receptor 1) on chromosome 11p15.1.
• Hyperinsulinemic hypoglycemia, familial, 2: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF2 is due to a mutation in the gene for Kir6.2 on chromosome 11p15.1.
• Hyperthermia induced defects: A rare disorder where hypothermia during pregnancy results in infant abnormalities involving growth, development and brain dysfunction.
• Hypomandibular faciocranial dysostosis: A very rare syndrome characterized mainly by very underdeveloped upper and lower jaw as well as a very small, absent or small tongue.
• Hypoplastic thumbs - hydranencephaly: A very rare syndrome characterized mainly by underdeveloped thumb and abnormal brain development where the cerebral space is filled with cerebrospinal fluid instead of brain tissue.
• 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).
• IBIDS syndrome: A rare inherited skin disorder characterized by red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as PIBIDS syndrome but doesn't involve photosensitivity.
• Ichthyosis - alopecia - eclabion - ectropion - mental retardation: A very rare syndrome characterized mainly by scaly skin, hair loss, mental retardation and outwardly turned eyelids and lips.
• Ichthyosis congenita, Harlequin fetus type: A very rare genetic skin disorder where a newborn is covered with large plates of thick skin that cracks and splits.
• Ichthyosis congenita, harlequin type: A very rare genetic skin disorder where a newborn is covered with large plates of thick skin that cracks and splits.
• Ichthyosis prematurity syndrome: A very rare syndrome characterized mainly by premature birth with a thick layer of skin that peels to leave dry, scaly, thickened skin.
• Imaizumi Kuroki syndrome: A very rare syndrome characterized mainly by premature skull fusion and forearm abnormalities.
• Impossible syndrome: A very rare syndrome (only one reported case) characterized a range of severe malformations, premature birth and stillbirth.
• 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.
• Interferon Gamma - Teratogenic Agent: There is evidence to indicate that exposure to Interferon Gamma 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.
• Intrauterine Growth Retardation: Slowly growing fetus in the womb during pregnancy
• Intrauterine infections: Infection of the fetus while still inside the womb. The type and severity of symptoms is determined by the type of infection and at what stage of pregnancy it occurs. Some cases are mild enough to be asymptomatic and others are severe enough to cause a miscarriage.
• Ives-Houston syndrome: A rare inherited syndrome characterized by retarded fetal growth, small head, malformed limbs and death before or soon after birth.
• Japanese skimmia poisoning: Japanese skimmia is a shrub which bears clusters of whitish, scented flowers on a purple-red stalk and bright red fruit. The plant originated in Japan and is often used as an ornamental plant in gardens. The plant, especially the red fruit, contains toxic chemicals which can cause serious heart problems if large quantities are eaten. Ingesting the fruit can also result in loss of fetus. The plant is only considered toxic if large quantities are eaten.
• Jaundice in pregnancy: Jaundice in pregnancy is a yellow discolouration of the skin and mucous membranes associated with liver malfunction.
• Johnson-Hall-Krous syndrome: A rare congenital disorder characterized by cataracts, cleft palate, high nose bridge, extra finger and tongue abnormalities.
• Johnston Aarons Schelley syndrome: A very rare lethal syndrome characterized mainly by contractures and thickened skin.
• Kaplan-Plauchu-Fitch syndrome: A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.
• Kennerknecht-Sorgo-Oberhoffer syndrome: A very rare syndrome characterized mainly by absent gonads and an underdeveloped right side of the heart.
• Kidney symptoms: Symptoms affecting one or both kidneys.
• Kleeblattschaedel syndrome: A very rare syndrome characterized mainly by a head the is somewhat cloverleaf shaped.
• Kniest-like dysplasia lethal: A lethal syndrome characterized primarily by severe skeletal abnormalities.
• Kosztolanyi syndrome: A very rare syndrome characterized mainly by severely retarded development, long thin fingers, mental retardation and skull and facial abnormalities.
• Koussef nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
• Kousseff-Nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
• Larsen-like syndrome, lethal form: A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities. The condition is a manifestation of abnormal collagen formation.
• Larsen-like syndrome, lethal type: A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities.
• Laryngeal web congenital heart disease short stature: A very rare syndrome characterized mainly by short stature, congenital heart disease and an abnormal membrane of tissue across the larynx.
• Lateral body wall complex: A very rare syndrome characterized involving the absence of the whole or part of an arm or leg as well as a severe defect of the abdominal wall. Death often occurs at birth.
• Lead poisoning: A type of heavy metal poisoning caused by excessive exposure to lead.
• Leprechaunism: A very rare genetic disorder characterized by insulin resistance which leads to growth delay and endocrine system abnormalities.
• Lethal arthrogryposis with anterior horn cell disease: A lethal genetic disorder involving multiple contractures and facial abnormalities.
• Lethal arthrogryposis with anterior horn cell disease (LAAHD): A lethal disorder characterized by arthrogryposis and loss of anterior horn motor neurons which results in a lack of fetal movement.
• Lethal chondrodysplasia, Moerman type: A very rare lethal syndrome characterized mainly by abnormal bone development.
• Lethal chondrodysplasia, Seller type: A very rare lethal syndrome characterized mainly by angulated long bones and variation in bone density throughout the body.
• Lethal congenital contracture syndrome (LCCS): A rare inherited lethal disorder characterized by multiple congenital contractures. There are two main types caused by different genetic defects. Type 2 differs from type 1 in that it includes additional head, face and eye symptoms and hydrops, joint webbing and fractures were usually absent.
• Lethal congenital contracture syndrome 1: A rare inherited lethal disorder characterized by multiple congenital contractures. Type 1 occurs as a result of a genetic defect on chromosome 9q34.
• Limb transversal defect - cardiac anomaly: A very rare syndrome characterized mainly by heart anomaly and leg and hand malformations involving missing bones.
• Limb-body wall complex: A rare condition where disruption of the amniotic band system can result in head, heart, lung, diaphragm, kidney or gonad abnormalities .
• Lissencephaly type III - metacarpal bone dysplasia: A rare syndrome characterized by an abnormally smooth brain as well as abnormal bone development in the hands.
• Listeriosis: Bacterial food poisoning
• Listeriosis - granulomatous infantiseptica: Listeria monocytogenes infection that is transmitted from a pregnant woman to the fetus.
• Lobstein disease: A group of rare inherited diseases that involves fragile bones. There are many different types based on the severity and extent of symptoms. Some types are severe enough to cause stillbirth or infant death whereas other types may cause few if any problematic symptoms.
• Low birth weight: When the weight of a new born baby is below average
• Low birth weight - dwarfism - dysgammaglobulinemia: A very rare syndrome characterized mainly by low birth weight, short stature and a immune system abnormality.
• Lower limb anomaly - ureteral obstruction: A very rare syndrome characterized mainly by an obstructed ureter and a leg anomaly.
• Lowry syndrome: A rare disorder characterized by the premature fusion of skull bones, absent or defective lower leg bone (fibula) and various other abnormalities.
• Lupus: Autoimmune disease with numerous effects on various organs and linings.
• Lurie-Kletsky syndrome: A very rare syndrome characterized mainly by a buildup of fluid inside the skull, abnormal brain development (corpus callosum) and a diaphragmatic hernia.
• Lyme disease: Lyme disease is an emerging infectious disease caused by at least three species of bacteria belonging to the genus Borrelia.
• Lymphangiomatosis, pulmonary: A rare disorder characterized by the presence of numerous small lung cysts at birth which severely affects breathing and blood pressure and generally results in infant death.
• MRXS-Christianson: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Malaria: A parasitic disease transmitted through mosquito bites.
• Male reproductive toxicity - Benzene: Exposure to Benzene, a recognized reproductive toxicant, can negatively affect the male reproductive system. Benzene is a widely used chemical - in pesticides and as a solvent in industries such as pesticide manufacturing, laboratory chemicals, printing, paper and pulp manufacture and pharmaceuticals manufacture. The severity and nature of the adverse effect is variable and can be influenced by factors such as level of exposure and individual sensitivity to the chemical. Effects on the male reproductive system can include such things as altered sexual behavior, altered fertility and problems with sperm shape or count.
• Malformations in neuronal migration: A rare disorder where the brain fails to develop normally - usually the cerebral cortex is involved. Various parts of the brain can be affected to various degrees depending on what stage of development the defect occurs. Mental retardation is one of the most common symptoms associated with brain malformations.
• Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
• Marijuana - Teratogenic Agent: There is evidence to indicate that exposure to Marijuana 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.
• Maroteaux-Stanescu-Cousin syndrome: A very rare lethal syndrome characterized mainly by abnormal bone development.
• Maternal hyperphenylalaninemia: A rare disorder where a mother suffering from phenylketonuria during pregnancy can result in various birth abnormalities.
• Meckel syndrome type 2: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes.
• Meckel syndrome type 3: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes. Type 3 differs from the other types in the location of the genetic defect and by the fact that meningoencephaloceles and extra fingers tend to occur less frequently.
• Meckel syndrome, type 5: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes. Type 5 is caused by a defect in the RPGRIP1L gene on chromosome 16q12.2.
• Meconium aspiration syndrome: A condition that occurs when an infant suffers respiratory distress following birth due to the presence of meconium in the amniotic fluid.
• Mefloquine - Teratogenic Agent: There is evidence to indicate that exposure to Mefenamic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Menkes Disease: Genetic disease of copper deficiency.
• Mental retardation - myopathy - short stature - endocrine defect: A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects.
• Mental retardation - unusual facies - talipes - hand anomalies: A very rare syndrome characterized mainly by mental retardation, unusual facial appearance, clubfoot and hand abnormalities.
• Mental retardation, Microcephaly, Epilepsy and Ataxia Syndrome: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Mental retardation, X-linked - craniofacial dysmorphology - epilepsy - ophthalmoplegia - cerebellar atrophy: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Mental retardation, X-linked, 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.
• Metaphyseal chondrodysplasia, recessive type: A recessively inherited skeletal disorder characterized by abnormal development of the bone metaphyses which results in short stature from birth.
• Microcephalic osteodysplastic primordial dwarfism, type 1: A form of dwarfism associated with brain and skeletal abnormalities.
• Microcephaly immunodeficiency lymphoreticuloma: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. There are a wide range of other abnormalities and symptoms that can occur.
• Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
• Microlissencephaly - micromelia: A rare syndrome characterized mainly by short arms, a brain defect called microlissencephaly, small head and early death.
• Microphthalmia syndromic, type 9: A rare inherited disorder characterized by small or absent eyes and lung, heart and diaphragmatic abnormalities. The disorder is caused by a defect on the STRA6 gene.
• Midline field defects: Congenital problems that occur along the vertical axis of the body. Defects can involve the brain, spine, heart, genitals and midline of the head and face.
• Miscarriage: Symptoms related to miscarriage or stillbirth.
• Monosomy 8q21 q22: A very rare chromosomal disorder where a portion of chromosome 8q is missing resulting in various abnormalities.
• Morse-Rawnsley-Sargent syndrome: A very rare syndrome characterized mainly by abnormal brain development and reduced fetal movement.
• Mulibrey Nanism syndrome: A very rare inherited malformation characterized by very small stature (dwarfism), pericardial constriction and yellow dots in fundus of the eye.
• Mullerian derivatives - lymphangiectasia - polydactyly: A rare syndrome characterized by extra fingers, Mullerian duct remnants and lymphangiectasia.
• Multicystic Renal Dysplasia: A congenital kidney defect where the renal cortex has multiple abnormally cysts which can be of varying sized. One or both kidneys may be affected to varying degrees which results in variable severity of symptoms. Often there are other associated kidney defects which can also affect the prognosis of the condition. If both kidneys are involved, death usually occurs around the time of birth but if only one kidney is involved, there are usually no symptoms.
• Multicystic renal dysplasia, bilateral: A rare congenital disorder where multiple cysts develop in the kidneys which affects their ability to function normally. The condition is results in death prior to or within weeks of birth.
• 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.
• Neonatal hepatitis: A rare life-threatening condition where iron accumulates in the liver of the fetus and produces severe symptoms after birth. Death is common during the fetal or infant stage.
• Nephrosis neuronal dysmigration Syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease. The type and severity of symptoms that can occur is variable.
• Nicotine addiction: Nicotine addiction is the uncontrollable desire to continue smoking. Smoking products contain nicotine which is a chemical that can lead to addiction if used over a period of time. Cessation causes withdrawal symptoms which can vary in nature and severity.
• Nijmegen Breakage Syndrome: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. There are a wide range of other abnormalities and symptoms that can occur.
• Non-Specific Urethritis: Urethral infection usually sexually transmitted
• Nondisjunction: Failure of chromosomes to separate during the cell cycle, causing one daughter cell to receive 2 chromosomes and the other daughter cell to receive no chromosomes.
• Novak syndrome: A very rare syndrome characterized mainly underdeveloped lungs and by an abnormal opening in the area of the larynx, trachea and esophagus.
• Oculo cerebro acral syndrome: A very rare syndrome characterized mainly by eye, brain, ear and limb abnormalities.
• Oligohydramnios: An abnormally small amount of amniotic fluid surrounding the fetus during pregnancy.
• Oligomeganephronic renal hypoplasia: A congenital renal hypoplasia associated with chronic renal failure in children. Also called oligomeganephronia.
• Oral facial digital syndrome, type 4: A rare inherited disorder characterized by facial, digital and oral abnormalities. Type IV is differentiated from the other types by the presence of severe shinbone deformity.
• Oto-Palatal-digital syndrome: A very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe.
• Oto-palato-digital syndrome, type 2: A rare genetic disorder characterized by head, face, mouth and bone abnormalities.
• PIBIDS syndrome: A rare inherited skin disorder characterized by photosensitivity (P), red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as IBIDS syndrome but involves photosensitivity.
• Pachygyria - mental retardation - seizures: A very rare syndrome characterized by mental retardation and seizures caused by abnormal structural brain development called pachygyria.
• Paine syndrome: A rare inherited disorder characterized by a small head, mental and physical retardation and vision and movement problems.
• 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.
• Pelvic inflammatory disease: A condition which is characterized by an infection which is located in the upper female genital tract
• Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• 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.
• Perinatal-lethal Gaucher disease: A disorder caused by a deficiency of an enzyme called glucocerebrosidase. The foetal form is one of several forms of Gaucher disease and is the rarest. The fetal form causes death before birth or soon after.
• Periodontitis: Dental infection of the gums and/or related bones.
• 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.
• Placenta conditions: Any condition that affects the placenta
• Placenta previa: Misplaced placenta covering the cervix
• Placenta symptoms: Symptoms of the placenta during pregnancy
• Platyspondylic lethal skeletal dysplasia, Torrance type: A very rare inherited condition involving severe bone growth problems and often resulting in death before or soon after birth.
• Podder-Tolmie syndrome: A rare syndrome characterized mainly by athtrogryposis, underdeveloped thumbs and meningoencephalocele.
• Pollitt syndrome: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Polycystic ovary syndrome: Polycystic ovary syndrome (PCOS) is an endocrine disorder that affects approximately 5% of all women.
• Polydactyly visceral anomalies cleft lip palate: A rare syndrome characterized mainly by the association of extra digits, cleft lip and/or palate and visceral anomalies. Various other abnormalities may also be present.
• Polyhydramnios: Excess amniotic fluid around a fetus in the womb. The condition may occur as a result of gastrointestinal, neurological, lung or other disorders. Mild cases are asymptomatic but more severe cases can result in problems for the mother and the baby.
• Polyploidy: When body cells contains more than 2 copies of each chromosome.
• Polysyndactyly - cardiac malformation: A very rare syndrome characterized mainly by an extra toe, webbed fingers and heart malformations.
• Pontocerebellar hypoplasia with infantile spinal muscular atrophy: A rare, recessively inherited disorder characterized by an abnormally small brain and brainstem which manifests as a small head and mental retardation. The disorder is lethal with death usually occurring within the first year. The brain progressively degenerates.
• Popliteal pterygium syndrome, lethal type: A rare lethal condition characterized by webbing of skin as well as various other physical and mental abnormalities.
• Postpartum depression: The occurrence of depression in a woman that occurs after the birth of a child
• Postpartum psychosis: The occurrence of psychosis in a woman that occurs after the birth of a child
• Postpartum thyroiditis: The occurrence of thyroiditis in a woman that occurs after the birth of a child
• Potter syndrome: A congenital condition involving absence of kidneys resulting in decreased amniotic fluid and compression of the fetus. The affected baby has leg deformities, poorly developed lungs and a wrinkled, flattened facial appearance and often don't survive.
• Pregnancy symptoms: Symptoms related to pregnancy.
• Pregnancy toxemia /hypertension: Preeclampsia is the development of high blood pressure, excess protein in the urine and swelling during pregnancy. Hypertension is a serious health condition due to the fact that it often causes no symptoms until it is severe. The blood pressure usually returns to normal after delivery.
• Premature chromosome condensation with microcephaly and mental retardation: A genetic disorder characterized mainly by a small head and mental retardation.
• Primary hypothyroidism: Primary hypothyroidism is a condition in which a defect in the thyroid gland leads to reduced production of thyroid hormone.
• 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.
• Proud-Levine-Carpenter syndrome: A very rare syndrome characterized mainly by abnormal brain development, a small head and genital abnormalities.
• Proximal spinal muscular atrophy: A rare group of muscle disorders which mainly affects the muscles closest to the trunk of the body. Muscles become progressively weak and wasted due to damage to motor neurons in the spinal cord and brainstem.
• Pterygium, Popliteal, lethal type: A rare lethal condition characterized by webbing of skin as well as various other physical and mental abnormalities.
• Pulmonary atresia - intact ventricular septum: A very rare heart defect where the opening that allows blood to travel from the heart to the lung is narrowed or absent which impairs the body's ability to oxygenate blood. Death generally occurs without immediate medical attention.
• Pulmonary cystic lymphangiectasis: A rare congenital condition where the lungs fail to develop normally. The disorder is characterized by the presence of dilated lymph ducts throughout the lungs.
• Pulmonary hypoplasia familial primary: A rare malformation where the lungs fail to develop properly. Death often occurs as a result.
• Pulmonary lymphangiectasia, congenital: A rare congenital condition where the lungs fail to develop normally. The disorder is characterized by the presence of dilated lymph ducts throughout the lungs.
• Pure red cell aplasia, congenital: 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.
• Pyknoachondrogenesis: A very rare lethal syndrome characterized mainly by abnormal skeletal growth as well as abnormal bone calcification.
• 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.
• Radio renal syndrome: A very rare syndrome characterized mainly by kidney, forearm and and thumb abnormalities.
• Raine syndrome: A very rare syndrome characterized mainly by increased bone density which ultimately results in death.
• Rajab-Spranger syndrome: A rare syndrome characterized mainly by a skin fat disorder, mental retardation and deafnes.
• Renal agenesis, bilateral: A rare congenital malformation where the kidneys don't develop during the fetal stage resulting in insufficient amniotic fluid.
• Renal dysplasia - limb defects syndrome: A very rare syndrome characterized mainly by abnormal kidney development and various arm bone defects.
• Renal dysplasia hepatic fibrosis dandy walker: A rare syndrome characterized mainly by abnormal kidneys, liver fibrosis and a Dandy-Walker brain malformation.
• 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.
• Reproductive toxicity - Vinyl Chloride: Vinyl Chloride is a suspected reproductive toxicant and exposure to it has the potential to negatively affect the human reproductive system. Vinyl Chloride is used mainly to make PVC products. The severity and nature of the adverse effect is variable and can be influenced by factors such as sex, level of exposure and individual sensitivity to the chemical. Effects on the female reproductive systems can include such things as menstrual problems, altered sexual behavior, infertility, altered puberty onset, altered length of pregnancy, lactation problems, altered menopause onset and pregnancy outcome. Effects on the male reproductive system can include such things as altered sexual behavior, altered fertility and problems with sperm shape or count.
• Reproductive toxicity - Xylene (mixed isomers): Xylene (mixed isomers) is a suspected reproductive toxicant and exposure to it has the potential to negatively affect the human reproductive system. Xylene (mixed isomers) is used mainly as an industrial solvent and is used in the manufacture paints, lacquers, resins, inks and also in the manufacture of dyes, plastics and pharmaceuticals. The severity and nature of the adverse effect is variable and can be influenced by factors such as sex, level of exposure and individual sensitivity to the chemical. Effects on the female reproductive systems can include such things as menstrual problems, altered sexual behavior, infertility, altered puberty onset, altered length of pregnancy, lactation problems, altered menopause onset and pregnancy outcome. Effects on the male reproductive system can include such things as altered sexual behavior, altered fertility and problems with sperm shape or count.
• Rh Disease: A disease that can occur when the mother's blood is not compatible with the fetal blood i.e. when an Rh-negative mother had a Rh-positive child. If the baby's blood is exposed to the mother's blood (through placenta, abortion, miscarriage, amniocentesis) the mother's body becomes sensitized and develops antibodies the Rh-positive blood. In future pregnancies, the mother's antibodies can attack the red blood cells of the unborn baby resulting in hemolytic disease. The severity of the disease is variable and can range from mild fetal anemia to severe anemia and even fetal death.
• Rhesus isoimmunisation: The antibody mediated destruction of red blood cells by those sensitive
• Rieger anomaly - partial lipodystrophy: A very rare disorder characterized by short stature, low birth weight and loss of skin fat. SHORT is an acronym for short stature, hyperextensible joints and/or hernia, ocular depression, Reiger anomaly and teething delay. Additional symptoms are also variably present.
• Roberts-SC Phocomelia: A rare genetic disorder characterized by limb deformities, midfacial defects and severe growth deficiency.
• Rokitansky Van Bogaert syndrome: A rare disorder characterized by pigmentation abnormalities of the skin and brain which causes various neurological symptoms as well as skin nevi.
• Rubella: A contagious viral infection caused by the Rubella virus which produces a rash and lymph node swelling. It can have serious implication in pregnant women as the virus can be transmitted through the placenta and cause serious fetal defects or even fetal death.
• Rubella congenital syndrome: The transplacental infection of a fetus with rubella
• Rudd-Klimek syndrome: A very rare syndrome characterized mainly by abnormal development of the tailbone with deformities of the urogenital area as well as other anomalies.
• Saal-Bulas syndrome: A very rare syndrome characterized mainly by lobster-like hands, diaphragmatic hernia and a brain abnormality.
• Samson-Viljoen syndrome: A very rare syndrome characterized by small ears, abnormal chest wall and facial, lip and palate clefts.
• Sanderson-Fraser syndrome: A very rare syndrome characterized by overlapping fingers, abnormally placed urethral opening in males, protruding eyes and Robin association (small jaw and downward displaced tongue).
• Say-Meyer syndrome: A very rare syndrome characterized mainly by short stature, developmental delay and trigonocephaly (premature fusion of skull bones giving the forehead a triangular shape).
• Schisis association: A medical term used to describe any condition involving two or more malformations of certain types. Malformations can include such things as oral clefts, neural tube defects, diaphragmatic hernias and omphaloceles.
• Schneckenbecken dysplasia: A very rare genetic disorder involving defective bone and cartilage development which causes cleft palate, short neck, short stature, unusual iliac shape and other bone abnormalities. The condition generally results in stillbirth or death soon after birth.
• Seckel syndrome: A rare condition characterized by fetal and postnatal growth retardation, mental retardation and characteristic facial features.
• Seckel syndrome 1: Seckel syndrome is a rare inherited disorder mainly involving retarded growth, mental retardation, small head and a facial appearance resembling a bird. It is often referred to as bird-headed dwarfism. There are three subtypes of the disorder. Additional variable symptoms may also occur.
• Seckel syndrome 2: Seckel syndrome is a rare inherited disorder mainly involving retarded growth, mental retardation, small head and a facial appearance resembling a bird. It is often referred to as bird-headed dwarfism. There are three subtypes of the disorder. Type 2 tends to have less severe motor and mental retardation and the head is not small. Type 2 also involves at least one café au lait spot. Additional variable symptoms may also occur.
• Seckel syndrome 3: Seckel syndrome is a rare inherited disorder mainly involving retarded growth, mental retardation, small head and a facial appearance resembling a bird. It is often referred to as bird-headed dwarfism. There are three subtypes of the disorder with type 1 being the most severe.
• Seckel-like syndrome, Majoor-Krakauer type: A very rare syndrome characterized by numerous abnormalities including poor fetal growth, reduced amniotic fluid and heart, brain spleen and kidney anomalies.
• Seckel-like syndrome, type Buebel: A rare syndrome characterized by dwarfism and other abnormalities characteristic of Seckel syndrome as well as hand and foot anomalies.
• Seemanova-Lesny syndrome: A rare disorder characterized by spasticity, seizures, absent abdominal reflexes, small head and mental retardation.
• Seghers syndrome: A very rare syndrome characterized mainly by spinal abnormalities and abnormal throat development where the throat opening at the back of the mouth is absent.
• Semmerkrot-Haraldsson-Weenaes syndrome: A very rare syndrome characterized mainly by anemia, missing thumb, an immune disorder and an excessive buildup of fluid in the fetus or newborn (hydrops fetalis).
• Sequeiros-Sack syndrome: A very rare syndrome characterized mainly by nail abnormality, thin skin and sparse scalp hair.
• Sexually Transmitted Diseases: Various diseases spread by sexual contact.
• Short limb dwarf lethal, Mcalister Crane type: A very rare syndrome characterized mainly by short arms and legs and resulting in stillbirth or infant death.
• Short limb dwarfism, Al Gazali type: A very rare lethal disorder involving severe limb shortening and other skeletal deformities.
• Short ribs - craniosynostosis - polysyndactyly: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
• Single upper central incisor: A very rare syndrome characterized by various defects in the middle of the face.
• Skeletal dysplasia, San Diego type: A very rare disorder characterized mainly by short limbs and flattened spinal vertebrae. Infants are stillborn or die soon after birth.
• 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.
• Smith-Lemli-Opitz syndrome, type 2: A rare birth disorder where an enzyme deficiency (7-dehydrocholesterol reductase) prevents cholesterol being metabolized properly. The condition causes a variety of physical abnormalities. Type II is a more severe form of the condition.
• Smoking: The smoking of cigarettes
• Soto's Syndrome: A rare hereditary disorder characterized by excessive growth during the first few years of life as well as various other mental and physical anomalies.
• Spinal dysostosis, type Anhalt: A very rare syndrome characterized by various spinal abnormalities.
• Spondylocostal dysostosis, Dandy-Walker: A rare syndrome characterized mainly by rib and spine abnormalities as well as the Dandy-Walker anomaly (brain cyst).
• Spondylocostal dysostosis, autosomal recessive: A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities. The recessive form is more severe than the dominantly inherited form.
• Spontaneous abortion: The expulsion from the uterus the products of conception that occurs naturally before the fetus is viable
• Stillbirth: Where a woman delivers a child who is dead
• Stimmler syndrome: A rare disorder characterized by dwarfism, diabetes, small head and high levels of alanine in the urine.
• Succinic acidemia: A rare metabolic disorder characterized by high levels of succinic acid in the blood.
• Symmetrical thalamic calcifications: A very rare disorder involving the calcification of a part of the brain called the thalamus which results in various abnormalities.
• Syndactyly type 1 - microcephaly - mental retardation: 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.
• Syphilis: A sexually transmitted disease caused by a bacteria (Treponema pallidum). The condition is often asymptomatic in the early stages but one or more sores may be present in the early stages. Untreated syphilis usually results in remission of visible symptoms but further severe damage may occur to internal organs and other body tissues which can result in death.
• Tetraamelia - multiple malformations: A very rare syndrome characterized mainly by a lack of arm and leg bones (hands and feet are still present) as well as other malformations.
• Tetraploidy: A very rare chromosomal disorder which results in various abnormalities. Infants are usually stillborn or die within months of birth.
• Thakker-Donnai syndrome: A very rare, severe genetic syndrome characterized by abnormal internal organs and facial anomalies.
• Thalamic degeneration symmetrical infantile: A very rare brain disorder characterized by abnormal brain development, seizures, respiratory distress and movement disorders.
• Thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. There are two subtypes of the disorder (? and ?) depending on what portion of the hemoglobin is abnormally synthesized. Each of these subtypes can be further classified depending on the number of thalassemia genes involved. A total of four genes is needed to make each ? protein chains and two genes are needed to make each ? chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
• Thanatophoric dysplasia, Glasgow variant: A lethal form of dwarfism.
• Thin ribs - tubular bones - dysmorphism: A very rare syndrome characterized mainly by thin ribs, narrow-shafted long bones and a large head.
• Thomas-Jewett-Raines syndrome: A very rare syndrome characterized mainly by small eyes, small ears and a lack of fetal movement.
• Thoraco abdominal enteric duplication: A very rare syndrome characterized by chest and abdominal abnormalities as well as intestinal duplication.
• Thymic-Renal-Anal-Lung dysplasia: A rare syndrome characterized by abnormalities involving the lungs, anus, kidneys and thymus.
• Tollner-Horst-Manzke syndrome: A very rare syndrome characterized by extra fingers, cleft lip, cleft palate and abdominal organ anomalies.
• Toxoplasmosis: Infection often caught from cats and their feces.
• Tracheoesophageal fistula - hypospadias: A rare syndrome characterized by an abnormal opening between the trachea and esophagus and abnormal positioning of urethral opening in males.
• Transplacental infections: An infection that passes from the mother to the fetus via the placenta. A large variety of infections can occur like this and the type and severity of symptoms can vary greatly depending on the type of infection and the stage of fetal development at which infection occurs. Examples of transplacental infections include cytomegalovirus, herpes virus, hepatitis, syphilis, toxoplasmosis and rubella.
• Tricho-hepato-enteric syndrome: A very rare syndrome characterized mainly by hair and liver abnormalities as well as severe diarrhea that usually starts in early infancy and can lead to death.
• Trichomoniasis: Sexually transmitted parasitic infection.
• Trichorrhexis nodosa syndrome: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Trichothiodystrophy, type C: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Trichothiodystrophy-neurocutaneous Syndrome: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Trichothiodystrophy-neurotrichocutaneous Syndrome of Pollitt: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Triose phosphate-isomerase deficiency: A very rare inherited condition involving a deficiency of triose phosphate-isomerase.
• Triploid syndrome: A complete extra set of chromosomes.
• Trisomy 12 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 12 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 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.
• Tsukuhara syndrome: A very rare syndrome characterized mainly by a curved spine, premature fusion of skull bones and a small head.
• Tucker syndrome: A rare syndrome characterized by vocal cord paralysis and droopy eyelids.
• Urophathy distal obstructive polydactyly: A rare syndrome characterized by extra digits and an obstructive urinary system disorder.
• Uterine fibroids: Benign nodules in the uterus wall.
• VACTERL with hydrocephalus, X-linked: A rare X-linked syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull (hydrocephalus).
• Vaginal bleed in pregnancy: Vaginal bleed in pregnancy refers to blood often found on underwear, the toilet paper, in the toilet bowl or after sexual intercourse. The blood loss may or may not be accompanied by other symptoms such as pain.
• Vaginal bleeding: Bleeding in or from the vagina.
• Vaginal symptoms: Symptoms related to the vagina
• Velofacioskeletal syndrome: A ver rare sydnrome characterized mainly by short stature and facial and skeletal abnormalities.
• Vitamin A embryopathy: A morbid condition of the embryo caused by the consumption of excess Vitamin A during pregnancy
• Vocal cord dysfunction familial: A rare inherited disorder where the vocal cord closes while breathing in which causes breathing difficulty which can be severe in some cases. Mental retardation is also associated.
• Whole-body acute irradiation - cerebral syndrome: Tissue injury can result from exposure to radiation. The radiation dose, rate of dosing and tissues irradiated will determine the severity and type of symptoms. The effects may be chronic, delayed or acute. Cerebral radiation syndrome involves exposure of the whole body to very high exposure to radiation (3,000 rads or more).
• Whole-body acute irradiation - hematopoietic syndrome: Tissue injury can result from exposure to radiation. The radiation dose, rate of dosing and tissues irradiated will determine the severity and type of symptoms. The effects may be chronic, delayed or acute. Hematopoietic syndrome involves exposure of the whole body to radiation of 200-1,000 rads.
• Williams Syndrome: A syndrome characterised by mental retardation, facial abnormalities and emotional instability
• 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.

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