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Diseases » Congenital conditions » Glossary
 

Glossary for Congenital conditions

  • 17-20 desmolase deficiency: A form of congenital adrenal hyperplasia where a deficiency of 17-20-desmolase results males having ambiguous or female external genitalia due to impaired sex steroid production.
  • 17-Beta-hydroxysteroid dehydrogenase III deficiency: A rare disorder characterized caused by an enzyme (17-ketosteroid reductase) defect only in the testes which results in a lack of testosterone which is needed during the fetal stage to give males there physical characteristics.
  • 18-Hydroxylase deficiency: A rare genetic, metabolic defect where a deficiency of the enzyme 18-Hydroxylase which results in a reduced amount of aldosterone and salt wasting.
  • 2-Hydroxyglutaricaciduria: A rare metabolic disorder characterized by high levels of a certain chemical (2-Hydroxyglutaric) which causes a serious progressive neurological disease and damage to the brain. The features of this disorder are variable and some cases are milder than others.
  • 2-Methylbutyric Aciduria: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
  • 2-methylbutyryl-coenzyme A dehydrogenase deficiency: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
  • 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
  • 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency: A rare inherited disorder where lack of a certain enzyme (3-methylcrotonyl-Coa carboxylase) stops proteins with the amino acid leucine being metabolized normally by the body. The leucine builds up in the body and causes damage to the brain and nervous system. The severity of the condition is variable with some cases being mild enough to be asymptomatic. The condition differs from type 2 in that it originates as a defect in a different gene (MCC1 gene) but it causes the same enzyme deficiency.
  • 3 alpha methylcrotonyl-coa carboxylase 2 deficiency: A rare inherited disorder where lack of a certain enzyme (3-methylcrotonyl-Coa carboxylase) stops proteins with the amino acid leucine being metabolized normally by the body. The leucine builds up in the body and causes damage to the brain and nervous system. The severity of the condition is variable with some cases being mild enough to be asymptomatic. The condition differs from type 1 in that it originates as a defect in a different gene (MCC2 gene) but it causes the same enzyme deficiency.
  • 3-Beta-HSD, Deficiency of: A rare condition where the deficiency of a particular enzyme (3-Beta-Hydroxysteroid Dehydrogenase) results in reduced levels of adrenal hormones - mineralocorticoids, glucocorticoids and sex steroids. The condition results in variable degrees of salt wasting and abnormal sexual organ development depending on the level of deficiency.
  • 3-Beta-Hydroxysteroid Dehydrogenase deficiency: A rare condition where the deficiency of a particular enzyme (3-Beta-Hydroxysteroid Dehydrogenase) results in reduced levels of adrenal hormones - mineralocorticoids, glucocorticoids and sex steroids. The condition results in variable degrees of salt wasting and abnormal sexual organ development depending on the level of deficiency.
  • 3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency of: A rare condition where the deficiency of a particular enzyme (3-Beta-Hydroxysteroid Dehydrogenase) results in reduced levels of adrenal hormones - mineralocorticoids, glucocorticoids and sex steroids. The condition results in variable degrees of salt wasting and abnormal sexual organ development depending on the level of deficiency.
  • 3-Hydroxyacyl-CoA Dehydrogenase II Deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • 3-Hydroxyisobutyric aciduria: A rare inborn metabolic disorder which causes brain and facial anomalies, seizures and growth problems.
  • 3-M Syndrome: A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected.
  • 3-alpha-Hydroxyacyl-CoA Dehydrogenase Deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • 3-alpha-hydroxyisobutyryl-CoA hydrolase deficiency: A metabolic disorder involving an enzyme deficiency which causes symptoms such as degeneration of the nervous system. The other features of the disorder are somewhat variable.
  • 3-methylcrotonyl-CoA carboxylase deficiency: A rare inherited disorder where lack of a certain enzyme (3-methylcrotonyl-Coa carboxylase) stops proteins with the amino acid leucine being metabolized normally by the body. The leucine builds up in the body and causes damage to the brain and nervous system. The severity of the condition is variable with some cases being mild enough to be asymptomatic.
  • 3?-hydroxysteroid dehydrogenase deficiency: A ver rare form of congenital adrenal hyperplasia involving a deficiency of 3?-hydroxysteroid dehydrogenase which results in reduced production of adrenal steroids (mineralocorticoids, sex steroids and glucocorticoids). The disorder can occur in classical, non-salt wasting and late-onset varieties.
  • 3C syndrome: A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name.
  • 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency: A very rare metabolic disorder where a deficiency of a particular enzyme results in the urinary excretion of a chemical called hawkinsin. Symptoms start once the infant is weaned off breast milk.
  • 4-hydroxyphenylacetic aciduria: A urinary abnormality usually caused by the deficiency of a particular enzyme (4-hydroxyphenylpyruvic acid oxidase). The urine contains excess 4-hydroxyphenylacetic acid.
  • 46,XX Gonadal dysgenesis epibulbar dermoid: A rare disorder characterized by gonad abnormalities and an eye disorder called epibulbar dermoid.
  • 46,XY Gonadal Dysgenesis, Complete or Partial, With or Without Adrenal Failure: A disorder of gonadal (testicular) development that occurs with or without adrenal failure. The failed gonadal development may be partial or complete.
  • 46,XY Gonadal Dysgenesis, Complete, SRY-Related: A rare disorder where a female has all the normal external femal characteristics but has non-functioning gonads. This means that no sex hormones needed for puberty are produced. This particular type is the result of a defect in the SRY gene located on chromosome Yp11.3.
  • 5-alpha-Oxoprolinase deficiency: An inborn error of metabolism where there is insufficient 5-oxoprolinase which generally produces few if any symptoms.
  • 6-pyruvoyl-tetrahydropterin synthase deficiency: A rare genetic disorder where insufficient levels of tetrahydropterin leads to a build up of phenylalanine in the blood which can cause toxic side effects such as nerve damage or even brain damage. The condition does not usually cause any significant symptoms.
  • ABCD syndrome: A rare inherited condition characterized by albinism, deafness, a black lock of hair and intestinal abnormalities.
  • ACAD8 deficiency: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
  • ACAD9 deficiency: A metabolic disorder involving a deficiency of an enzyme (acyl-CoA dehydrogenase-9). The symptoms are variable and are usually triggered by a viral infection or ingestion of aspirin which can trigger a Reye-like episode which can cause death.
  • ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • ACTH resistance: A rare inherited genetic disorder characterized by adrenal insufficiency due to the adrenal gland's inability to respond to ACTH and hence produce the hormone called cortisol.
  • AChR deficiency and short channel open time: Extremely rare condition characterized by respiratory insufficiency from birth, facial dysplasia and paralysis of eye muscles.
  • ADP platelet receptor P2Y12, deficiency of: Deficiency of a compound (P2Y12) involved in the blood clotting process which results in bleeding problems.
  • ADULT syndrome: A rare syndrome characterized by nail abnormalities, abnormal teeth development, tear duct obstruction, pigmentation anomalies and hand and foot abnormalities.
  • AREDYLD: A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes.
  • ATRUS syndrome: A rare syndrome characterized by fusion of the forearm bones near the elbow and a blood disorder.
  • Aagenaes syndrome: A rare inherited birth abnormality involving underdeveloped lymph vessels which results in swollen legs and liver problems.
  • Aarau dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Aarau type was discovered in Aarau.
  • Aarhus dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Aarhus type was discovered in Aarhus.
  • Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
  • Aase Smith syndrome: A rare hereditary syndrome characterized by deformities such as cleft palate, joint contractures and hypoplastic anemia.
  • Aase Syndrome: A genetic condition which results in anaemia and some skeletal and joint deformities
  • Aase syndrome 2: A rare genetic disorder characterized by blood abnormalities and thumb structure defects.
  • Aase-Smith I syndrome: A very rare hereditary syndrome characterized by deformities such as joint contractures, anemia, hydrocephalus and cleft palate.
  • Aberrant subclavian artery abnormality: A rare defect where one the subclavian artery arises from an abnormal location on the aortic arch. The defect may cause compression of organs such as the airway and the voice box.
  • Abeshouse's triad: A congenital anomaly involving the development of benign cysts in the adrenal gland.
  • Ablepharon macrostomia syndrome: A rare disorder involving a number of mainly physical abnormalities.
  • Ablinism I syndrome: A recessively inherited form of albinism involving the complete lack of skin, hair and eye pigments.
  • Ablinism II syndrome: A recessively inherited form of albinism involving a reduction in skin, hair and eye pigments.
  • Abruzzo Erickson syndrome: A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness.
  • Absence of gluteal muscle: The absence of the buttock (gluteal) muscles at birth. Spina bifida occulta (absence of back part of some vertebrae) was also present.
  • Absence of pulmonary artery: The absence of a pulmonary artery at birth.
  • Absence of septum pellucidum: The absence of the thin membrane that separates the two halves of the brain. The defect itself is not a disorder but is usually observed as a characteristic of a condition called septo-optic dysplasia which also involves optic nerve and pituitary abnormalities.
  • Absence of septum pellucidum and septo-optic dysplasia: A rare birth defect where a thin membrane in the middle of the brain is missing. This brain abnormality is never present on it's own but is a characteristic of septo-optic dysplasia where the patient also has optic disk abnormalities and pituitary deficiencies.
  • Absence of septum pellucidum with porencephalia syndrome: A rare syndrome present at birth and characterized by the absence of the thin membrane in the middle of the brain (septum pellucidum) as well as abnormal cavities in the brain (porencephaly). The syndrome also involves other structural brain abnormalities.
  • Absence of tibia: The congenital absence of the tibial bone which is the shin bone. One or both shin bones may be missing.
  • Absence of tibia with polydactyly: The congenital absence of the tibial bone which is the shin bone as well as the presence of extra fingers.
  • Absent breasts and nipples: The congenital absence of the breasts and nipples. The defect is often associated with other abnormalities.
  • Absent corpus callosum -- cataract -- immunodeficiency: A rare syndrome characterized by immunodeficiency, cleft lip or palate, cataract, reduced pigmentation and brain abnormalities.
  • Absent duct of Santorini: The pancreatic duct allows movement of pancreatic juices between the pancreas and common bile duct. Only some people have an additional accessory pancreatic duct called the Duct of Santorini. Generally the anomaly is asymptomatic but some patients may have an increased risk of developing pancreatitis due to other associated ductal anomalies.
  • Absent patella: A rare genetic malformation where the kneecap is absent or reduced.
  • Absent patellae -- scrotal hypoplasia -- renal anomalies -- facial dysmorphism -- mental retardation: A rare syndrome characterized by absent kneecaps, underdeveloped scrotum, kidney anomalies, unusual facial appearance and mental retardation.
  • Abuelo Forman Rubin Syndrome: A rare condition where a blood disorder called alpha-thalassemia is associated with hand and foot defects and genital abnormalities.
  • Acalvaria: A rare congenital condition where the skull cap is missing but the rest of the face and base of the skull is normal. The skin of the scalp simply covers the brain with no protective skull bone under it.
  • Acardia: A very rare condition where a baby is without a heart. This normally occurs in conjoined twins where the heart of one of the twins pumps the blood through both bodies.
  • Accessory pancreas: A small clusters of pancreas cells that are detached from the pancreas and found in the wall of the stomach or intestines. The defect causes no problems and is an incidental finding.
  • Aceruloplasminemia: A rare, recessively inherited neurodegenerative disorder characterized by a lack of ceruloplasmin in the blood. The lack of ceruloplasmin results in abnormal iron use in the body and leads to iron deposits in various body tissues such as the brain, pancreas and liver. The iron overload results a neurodegeneration (ataxia, dementia and extrapyramidal disorders) and diabetes. Patients with only a partial absence of ceruloplasmin are often asymptomatic.
  • Acetyl-coa acetyltransferase 2 deficiency: A rare disorder where a genetic anomaly results in a deficiency of a particular enzyme (Acetyl-coa acetyltransferase 2) which is associated with mental retardation and reduced muscle tone. The enzyme is involved in lipid metabolism
  • Acheiropodia: A rare birth defect where infants are born without hands or feet.
  • Achondrogenesis: A group of disorders characterized by abnormal bone and cartilage development.
  • 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.
  • Achondrogenesis, type 4: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death. It has been designated as a mild form of Langer-Saldino achondrogenesis.
  • Acid phosphatase deficiency: A group of inherited metabolic bone disorders varying in degree of severity and characterized a deficiency of alkaline phosphate which affects bone mineralization.
  • Acidemia, isovaleric: A rare genetic condition where the body can't process proteins adequately. More specifically, there are insufficient levels of the enzyme needed to break down an amino acid called leucine. This results in a build up of isovaleric acid which can harm the brain and nervous system. Some people suffer severe symptoms from birth and others suffer milder symptoms that come and go and are affected by such things as infections or consumption of high protein food.
  • Acidemia, methylmalonic: An inborn error of metabolism where amino acids in the body aren't metabolized properly resulting in high levels of the acid throughout the body.
  • Acidemia, propionic: An inherited genetic disorder where the body is incapable of processing some proteins and fats resulting in the accumulation of certain substances in the body which causes the symptoms of the condition. The condition can be life threatening.
  • Aconitase deficiency: A rare disorder where deficiency of an enzyme called aconitase results in muscle disease and intolerance to exercise.
  • Acral dysostosis -- dyserythropoiesis: A rare disorder characterized by hand and foot defects as well as a congenital form of anemia characterized by the production of abnormal red blood cells.
  • Acro coxo mesomelic dysplasia: A rare inherited form of dwarfism characterized mainly by shortening of the middle and end parts of the limbs.
  • Acro-pectoro-renal field defect: A very rare genetic syndrome characterized by abnormalities of the genital and urinary systems as well as the absence of chest muscles at birth.
  • Acro-reno-ocular syndrome: A disorder characterized by eye abnormalities, kidney defects and abnormalities of the arm and hand bones.
  • Acrocallosal Syndrome (Schinzel Type): A rare condition characterized by absence of portion of the brain (corpus callosum), mental deficiency, duplicated toes, mental deficiency and other abnormalities.
  • Acrocallosal syndrome: A rare genetic disorder characterized by underdeveloped or absent corpus callosum of brain, duplication of thumb or big toe and extra fingers or toes.
  • Acrocephalopolydactyly: A rare genetic condition characterized by limb abnormalities, extra digits and hydrocephalus. Other additional symptoms are variably present.
  • Acrocephalopolydactyly -- Cardiac Disease -- Ear, Skin and Lower Limb Defects: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalopolydactyly II: A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation.
  • Acrocephalopolysyndactyly type III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalopolysyndactyly, type 2 (ACPS 2): A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Acrocephalosyndactyly: A group of inherited disorders characterized by abnormalities involving the skull, face, hands and feet. Apert, Pfeiffer and Crouzon syndrome are examples of various types of the disorder.
  • Acrocephalosyndactyly II: A rare inherited disorder characterized primarily by premature closure of skull bones, fusion of fingers and toes and eye and face abnormalities.
  • Acrocephalosyndactyly type 3 (ACPS 3): A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
  • Acrodysplasia scoliosis: A rare inherited genetic disorder characterized by short fingers and toes, scoliosis and other spine anomalies.
  • Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia: A rare inherited disorder characterized by short stature, underdeveloped calf bones and abnormalities of the hand and foot bones.
  • Acrofacial dysostosis -- ambiguous genitalia: A rare disorder characterized mainly by ambiguous genitals and abnormal development of bones in the face, jaw, hands and feet.
  • 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 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 atypical postaxial: A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features.
  • Acrofacial dysostosis autosomal recessive: A rare inherited disorder characterized mainly by facial, hand and foot anomalies. The disorder resembles Nager syndrome.
  • Acrofacial dysostosis postaxial, atypical: A rare disorder characterized by an unusual facial appearance, short stature and hand and foot bone anomalies. The disorder may be related to the fact that the infants were born to mothers with diabetes.
  • Acrofacial dysostosis, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
  • Acrofacial dysostosis, Palagonia type: One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.
  • Acrofacial dysostosis, Weyers type: A rare disorder characterized by facial abnormalities and extra digits, nail abnormalities and short limbs.
  • Acromegaloid facies -- hypertrichosis: A very rare genetic disorder characterized by thick lips and gums, thick upper eyelids, large hands and occasionally mental deficiency.
  • Acromelanosis: A birth anomaly where there is patches of increased pigmentation in the ends of the fingers and toes. The pigmentation may spread to surrounding areas of skin.
  • Acromelic frontonasal dysplasia: A very rare genetic malformation syndrome characterized by developmental abnormalities of the face and brain.
  • Acromesomelic dysplasia: A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis.
  • Acromesomelic dysplasia Brahimi Bacha type: A very rare genetic malformation syndrome characterized primarily by developmental abnormalities of the face and skeletal bones.
  • Acromesomelic dysplasia Hunter Thompson type: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones.
  • Acromesomelic dysplasia, Maroteaux type: A rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies.
  • Acromicric dysplasia: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones and facial anomalies.
  • Acropectoral syndrome: A rare disorder characterized by extra fingers and toes, fusion of fingers and toes and anomalies involving the abdominal and chest wall.
  • Acropectorovertebral dysplasia: A rare inherited genetic disorder characterized by abnormalities involving the fingers, toes, palate and chest bones.
  • Acrorenal mandibular syndrome: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
  • 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.
  • Acrosphenosyndactylia: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Acute intermittent porphyria: A rare metabolic disorder characterized by a deficiency in the porphobilinogen deaminase enzyme which results in a build-up of porphyrins or its precursors in the body. Using certain drugs or eating certain foods can trigger the symptoms of the condition.
  • Acyl-CoA dehydrogenase, short chain, deficiency of: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy. Symptoms are exacerbated by fasting or acute illness. The severity of symptoms is variable with some patients remaining virtually asymptomatic their whole life while other suffer symptoms from infancy.
  • Acyl-CoA dehydrogenase, very long chain, deficiency of: A rare inherited genetic condition where the body is unable to convert certain fats to energy i.e. there is not enough of a certain enzyme which is needed to metabolize a type of fat called long-chain fatty acids. The build-up of these fatty acids in the body causes damage. There are three subtypes of the disorder each with varying severity: severe early-onset form, an intermediate form and an adult-onset form.
  • Adactylia unilateral: A rare hand malformation where the ends of the 2nd and 5th digits is missing. The nails on the affected fingers are tiny remnants.
  • Adactylia unilateral dominant: A rare genetic condition characterized by missing portions of fingers usually with some sort of malformed remnant of a nail on the end of what is remaining of the finger.
  • Adams-Oliver Syndrome: A very rare inherited disorder characterized by scalp, skull and limb abnormalities. The range and severity of the symptoms can vary greatly from mild to severe.
  • Adducted thumb syndrome recessive form: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Adducted thumbs -- arthrogryposis, Christian type: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Adelaide I dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Aarau type was discovered in Aarau.
  • Adenine phosphoribosyltransferase deficiency: A rare genetic disorder where an enzyme (2, 8-dihydroxyadenine) deficiency results in urinary tract stone formation.
  • Adenosine deaminase deficiency: A rare disorder where a deficiency in the activity of adenosine deaminase causes severe immunodeficiency which in turn results in frequent severe bacterial, viral and fungal infections.
  • Adenosine monophosphate deaminase deficiency: A rare metabolic disorder characterized by a deficiency of adenosine monophosphate deaminase which affects muscle energy production. The condition is usually asymptomatic but some people suffer from muscle pain, cramps and fatigue following exercise.
  • Adenosine triphosphatase deficiency, anemia due to: A rare metabolic disorder where anemia is caused by a deficiency of the enzyme called adenosine triphosphatase.
  • Adenylosuccinate lyase deficiency: A rare inherited disorder characterized by a deficiency of the enzyme called adenlyosuccinate lyase which generally results in psychomotor retardation and autistic behavior.
  • Adrenal Hyperplasia, Congenital (General): Congenital adrenal hyperplasia is an inherited condition characterized by adrenal insufficiency. It is caused by a deficiency in an enzyme needed to produce certain adrenal hormones such as cortisol and aldosterone.
  • Adrenal hyperplasia, congenital type 3: A group of disorders that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The severity of the condition is variable depending on the degree of deficiency.
  • Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency: A rare form of congenital adrenal hyperplasia characterized by a deficiency of 11-Beta-hydroxylase which results in excess androgen production and hypertension. The disorder can occur in virilizing, hypertensive and salt-wasting forms and symptoms may range from mild to severe.
  • Adrenal hypoplasia congenital, X-linked: A genetic disorder which affects the body tissues that produce hormones. It is characterized by underdeveloped adrenal glands which results adrenal insufficiency and hypogonadotrophic hypogonadism.
  • Adrenoleukodystrophy, autosomal, neonatal form: A rare inherited disorder involving the adrenal glands, testes and certain parts of the brain (white matter). It is a less severe form of leukodystrophy where an abnormality within the body cells prevents the metabolism of certain fats (long chain fatty acids).
  • Agenesis of salivary glands and lacrimal glands: A rare syndrome characterized by absent or severely underdeveloped salivary and lacrimal glands. The ducts openings are usually absent also.
  • Agenesis of the corpus callosum: Congenital absence of connective part of the brain.
  • Agenesis of the corpus callosum -- mental retardation -- coloboma -- micrognathia: A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly.
  • Aglossia: A rare birth defect where the tongue is missing or underdeveloped. Often other anomalies are also present e.g. missing parts of hands and feet, small jaw and oral webbing.
  • Aglossia and situs inversus: A rare birth defect where the location of the internal organs are opposite to where they should be i.e. the heart is on the right side instead of the left. This condition is also characterized by the absence of the tongue.
  • Aglossia-Adactylia syndrome: A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Other malformations are also variably present.
  • Aglossia-Hypoactylia syndrome: A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Other malformations are also variably present.
  • 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.
  • Agnathia-microstomia-synotia: A rare disorder characterized by an absent or very small lower jaw, small mouth and ear lobes which are very close together or even fused (synotia).
  • Agyria-pachygyria type 1: Abnormal brain development where the brain fails to develop normally during the fetal stage.
  • Aicardi syndrome: A rare genetic disorder where the structure connecting the two halves of the brain fails to develop which results in seizures and eye abnormalities .
  • Aicardi-Goutieres syndrome: A rare inherited progressive disease that affects the brain and immune system.
  • Aicardi-Goutieres syndrome 1: A rare inherited progressive disease that affects the brain and immune system. Type 1 is caused by a defect on chromosome 3p21.3-p21.2.
  • Aicardi-Goutieres syndrome 2: A rare inherited progressive disease that affects the brain and immune system. Type 2 is caused by a defect on chromosome 13q14-q21.
  • Aicardi-Goutieres syndrome 3: A rare inherited progressive disease that affects the brain and immune system. Type 3 is caused by a defect on chromosome 11q13.2.
  • Aicardi-Goutieres syndrome 4: A rare inherited progressive disease that affects the brain and immune system. Type 4 is caused by a defect on chromosome 19p13.13.
  • Aicardi-Goutieres syndrome 5: A rare inherited progressive disease that affects the brain and immune system. Type 5 is caused by a defect on chromosome 3p21.3-p21.2.
  • Akaba-Hayasaka syndrome: A very rare syndrome characterized mainly by a prominent forehead, cloudy corneas, low nasal bridge, underdeveloped chest and short limbs.
  • Aksu von Stockhausen syndrome: A rare condition observed in a Turkish family and characterized by various head and neck malformations that have resulted from abnormal development of the branchial arches.
  • Al Awadi syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis.
  • Al 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 Aziz Salem syndrome: A rare syndrome characterized mainly by heart disease, short stature and a webbed neck.
  • Al Gazali Hirschsprung syndrome: A rare disorder characterized by Hirschsprung disease (an intestinal disorder), nail abnormalities and facial anomalies.
  • Alacrimia, congenital: A birth defect characterized by a lack of tear production occurs from infancy. The lack of tears may stem from defects in the glands that produce the tears or in the tear ducts which carry the tubes.
  • Alajouanine syndrome: A birth disorder characterized mainly by clubfoot, strabismus and facial paralysis. The facial paralysis is caused by damage to the 6th and 7th cranial nerve.
  • Alar cartilages hypoplasia -- coloboma -- telecanthus: A rare inherited disorder characterized by a cleft in the nose cartilage and an increased distance between the corner of the eye and the nose (telecanthus).
  • Alba/Geneva I dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Alba/Geneva I type was discovered in Alba/Geneva I.
  • Albinism: A rare inherited condition characterized by a lack of pigmentation in the hair, skin and/or eyes.
  • Albinism deafness syndrome: A rare syndrome characterized by the association of deafness with partial albinism involving patches of absent pigmentation in the skin and hair. The disorder is inherited in a X-linked manner.
  • Albinism immunodeficiency: A medical condition characterized by the association of immune system problems and albinism.
  • Albinism ocular late onset sensorineural deafness: A rare inherited condition characterized by a lack of eye pigmentation and deafness that usually starts in middle-age. Severity of symptoms is variable.
  • Albinism, minimal pigment type: A rare inherited disorder characterized by a total lack of pigmentation at birth. However, during the first decade of life, some pigmentation does develop in the eyes. The disorder is believed to be a part of a disorder called oculocutaneous albinism type 1B.
  • Albinism, ocular, autosomal recessive: A rare inherited condition characterized by reduced eye pigmentation with normal, or near normal hair and skin pigmentation.
  • Albinism-deafness of Tietz: Tietz syndrome is a relatively rare condition characterized by deafness and albinism. It should not be confused with the similarly named Tietz's syndrome which involves inflammation of chest cartilage.
  • Albright like syndrome: A rare disorder characterized by mental retardation, short stature and finger and toe abnormalities.
  • Aldolase A deficiency: A rare condition where a deficiency of the enzyme called aldolase A causes muscle problems and anemia.
  • Ales dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Alès type was discovered in Alès.
  • Alkaptonuria: A rare disorder where the abnormal accumulation of a particular acid (homogentisic acid) in the body causes connective tissue and bone damage. This damage gives tissues a dark or bluish discoloration.
  • Allain Babin Demarquez syndrome: A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
  • 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.
  • Almeria I dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Alméria I type was discovered in Alméria I.
  • Alopecia congenita keratosis palmoplantaris: An extremely rare condition characterized by thickening of skin on the palms and soles and lack of hair.
  • Alopecia immunodeficiency: A rare syndrome characterized by alopecia and primary immunodeficiency.
  • Alpha 1-Antitrypsin Deficiency: A rare disorder characterized by the development of lung disease in adults and liver disease in adults and children.
  • Alpha thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia involves defects in one or more of the four genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Alpha thalassemia -- Hemoglobin H disease: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Hemoglobin H disease involves defects in three of the four genes required to make each ? protein chain. The main symptom is moderate to severe anemia.
  • Alpha thalassemia -- silent carrier: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia silent carrier involves defects in one of the four genes required to make each ? protein chain. The patients will have no symptoms but if they have children with a partner who carries thalassemia genes then the condition may be passed on to the offspring.
  • Alpha thalassemia major: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia major is very rare involves defects in all of the four genes required to make each ? protein chain. The condition leads to infant death before or soon after birth.
  • Alpha thalassemia trait: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia trait involves defects in two of the four genes required to make each ? protein chain. The main symptom is mild anemia which may go unnoticed in many people.
  • Alpha-Mannosidosis: A rare condition which is characterized by a lysosomal storage defect.
  • Alpha-N-acetylgalactosaminidase deficiency, Type II: A very rare inherited metabolic disorder where deficiency of an enzyme (alpha-N-acetylgalactosaminidase) causes glycoplids to accumulate in body tissues and result in various symptoms. Type 2 occurs during the second or third decade of life and is milder than type I and doesn't involve neurological degeneration.
  • Alpha-N-acetylgalactosaminidase deficiency, Type III: A very rare enzyme deficiency (N-acetyl-alpha-D-galactosaminidase) which can occur in three forms: type I (infantile-onset neuroaxonal dystrophy), type II or Kanzaki disease (adult-onset) and type III (mild or moderate form).
  • Alpha-ketoglutarate dehydrogenase deficiency: A metabolic disorder characterized by a deficiency of Alpha-ketoglutarate dehydrogenase which results in high levels of oxoglutaric acid in the urine as well as other severe symptoms.
  • Alpha-mannosidosis type II: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage. This form of the condition is less severe than type I (infantile form).
  • Alpha-mannosidosis, adult-onset form:
  • Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
  • Alport syndrome -- mental retardation -- midface hypoplasia -- elliptocytosis: A rare syndrome characterized by the association of Alport syndrome, mental retardation, underdeveloped midface and a blood abnormality (elliptocytosis). Alport syndrome is an inherited condition involving progressive kidney damage and hearing loss.
  • Alsing syndrome: A rare syndrome characterized mainly by kidney problems, skeletal abnormalities and a hole in the coloboma of the eye.
  • Alves Castelo dos Santos syndrome: A rare syndrome characterized by hair, eye, skin and spinal abnormalities.
  • Amastia: A rare condition where the breast or nipple is absent.
  • Amastia, bilateral, with ureteral triplication and dysmorphism: A very rare disorder characterized mainly by the absence of both breasts, triplicated ureters (normally they are duplicated), facial anomalies and various other defects.
  • Amaurosis Congenita of Leber, type 12: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 12 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1q32.3.
  • Amaurosis Congenita of Leber, type 13: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is obvious usually by the age of 4 years. Type 13 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 14q23.3, RDH12 gene.
  • Amaurosis congenita of Leber: A rare genetic eye disorder characterized by blindness at birth or within years as well as other eye abnormalities.
  • Amaurosis congenita of Leber, type 1: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type I is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 17p13.1, RETGC1 gene.
  • Amaurosis congenita of Leber, type 10: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 10 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 12, CEP290 gene.
  • Amaurosis congenita of Leber, type 11: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 11 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 7q, IMPDH1 gene.
  • Amaurosis congenita of Leber, type 2: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 2 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1, RPE65 gene.
  • Amaurosis congenita of Leber, type 3: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 3 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 14q23.3, RDH12 gene.
  • Amaurosis congenita of Leber, type 4: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 4 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 17p13.1, AIPL1 gene.
  • Amaurosis congenita of Leber, type 5: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 5 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 6q11-q16.
  • Amaurosis congenita of Leber, type 6: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 6 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 14q11, RPGRIP1 gene.
  • Amaurosis congenita of Leber, type 7: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 7 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 19q13.3, CRX gene.
  • Amaurosis congenita of Leber, type 8: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 8 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1q31-q32.1, CRB1 gene.
  • Amaurosis congenita of Leber, type 9: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 9 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1p36, LCA9 gene.
  • Amelia, autosomal recessive: A rare disorder characterized by the complete absence of the arms and a partial absence of the legs. The disorder has been described in the 3 fetuses of one family.
  • Amelo-onycho-hypohidrotic syndrome: A rare disorder characterized primarily by tooth and nail abnormalities and reduced sweating ability.
  • Amiens I dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Amiens I type was discovered in Amiens I.
  • Aminoacidopathies: Any of a group of inborn errors of metabolism which results in the build up in the body of one or more amino acids in the blood and/or urine. The range and severity of symptoms is hugely variable.
  • Aminoacylase 1 deficiency: A rare genetic disorder caused by an enzyme (aminoacylase-1) deficiency. There is still uncertainty whether the deficiency actually causes any of the symptoms observed in patients.
  • Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Amsterdam dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Amsterdam type was discovered in Amsterdam.
  • Amyoplasia: A rare condition characterized by congenital joint stiffness.
  • Anaemia, sideroblastic, X-linked -- ataxia: A very rare inherited disorder characterized by mild anemia and early onset neurological motor symptoms. The neurological symptoms tend to be relatively stable or slowly progressive with only occasional dependence on crutches or wheelchairs.
  • Anal sphincter dysplasia: A malformation of the anal canal.
  • Andersen disease: An rare inborn error of metabolism involving glycogen storage and characterized by cirrhosis and sometimes liver failure. Lack of the amyl-transglucosidase enzyme and abnormal glycogen causes the condition.
  • Anemia, 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.
  • Anemia, sideroblastic spinocerebellar ataxia: A rare inherited condition characterized by anemia at birth as well as spinocerebellar ataxia (impaired ability to control voluntary movements).
  • Anencephaly: A birth defect where most or all of the brain is missing - most die before birth. Usually the associated portions of skull and other tissue are also missing.
  • 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.
  • Angel-Shaped Phalanges: A medical term used to describe bones in the fingers or toes which have an abnormal angel-shaped appearance. The anomaly may be associated with rare conditions such as brachyphalangy type C and ASPED.
  • Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
  • Aniridia: A genetic disorder where part or all of the iris of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV.
  • Aniridia -- absent patella: A rare genetic condition characterized by an abnormal or missing kneecap as well as the absence of the iris of the eye.
  • Aniridia -- mental retardation syndrome: A very rare syndrome characterized by mental retardation and absent irises.
  • Aniridia -- ptosis -- mental retardation -- obesity, familial: A rare familial disorder characterized by eye abnormalities, mental retardation and obesity.
  • Aniridia -- renal agenesis -- psychomotor retardation: A rare genetic disorder characterized by missing irises of the eye, kidney developmental problems and mental retardation.
  • Aniridia I: A genetic disorder where part or all of the iris (except for the stump) of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV.
  • Aniridia II: A genetic disorder where part or all of the iris of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV. AN-II is often associated with other eye problems such as glaucoma and nystagmus.
  • Aniridia III: A genetic disorder where part or all of the iris of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV. AN-III is associated with mental retardation.
  • Aniridia ataxia renal agenesis psychomotor retardation: A rare genetic disorder characterized by missing irises of the eye, ataxia, psychomotor retardation and abnormally kidneys.
  • Aniridia cerebellar ataxia mental deficiency: A rare inherited disorder characterized by a partial absence of the iris, mental retardation and impaired coordination of voluntary movements.
  • Aniridia, sporadic: A rare eye malformation where part or all of the iris of the eye is missing at birth.
  • Ankyloblepharon filiforme -- imperforate anus: A rare genetic disorder characterized by a narrowed or absent anal opening as well as fused eyelids.
  • Ankyloblepharon filiforme adnatum -- cleft palate: A rare inherited genetic disorder characterized by a cleft palate and eyelid fusion.
  • Ankylosis -- facial anomalies -- pulmonary hypoplasia syndrome: A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs.
  • Annular constricting bands: Bands of amniotic tissue which can constrict parts of the body (especially the limbs) and result in deformity, swelling or even amputation of a body part. The severity and part of the body involved varies from case to case.
  • Anonychia: An inherited condition where an infant is born without fingernails and toe nails. The finger bones were normal.
  • Anonychia -- ectrodactyly: A very rare syndrome characterized by the absence of nails and the absence of all or part of one or more fingers or toes (ectrodactyly).
  • Anonychia -- microcephaly: A very rare syndrome characterized by the absence of nails and a small head.
  • Anonychia onychodystrophy brachydactyly type b: A rare, dominantly inherited disorder characterized abnormal or absent nails, permanently flexed fingers and a broad, finger-like thumb.
  • Anonychia with flexural pigmentation: A rare disorder characterized by missing nails and areas of increased and decreased pigmentation in the groin and armpits.
  • Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly: A rare, dominantly inherited disorder characterized abnormal or absent nails, missing fingers, permanently flexed fingers and a broad, finger-like thumb.
  • Anophthalmia -- Microphthalmia, isolated: A rare disorder where absent or small eyes are not associated with any other abnormalities.
  • Anophthalmia -- cleft palate -- micrognathia: A rare syndrome characterized mainly by absent eyes, cleft palate and a small jaw.
  • Anophthalmia -- esophageal atresia -- cryptorchidism: An extremely rare congenital malformation characterized by absent eyes, undescended testes and an esophageal malformation.
  • Anophthalmia -- hand and foot defects -- mental retardation: A rare syndrome characterized mainly by mental retardation, hand and foot defects and absent eyes.
  • Anophthalmia -- heart and pulmonary anomalies -- intellectual deficit: A rare disorder characterized by absent eyes, heart and lung anomalies and mental retardation.
  • Anophthalmia -- hypothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
  • Anophthalmia -- hypyothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
  • Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
  • Anophthalmia -- microcephaly -- hypogonadism: A rare syndrome characterized mainly by absent eyes, a small head and hypogonadism.
  • Anophthalmia -- short stature -- obesity: A very rare syndrome characterized by absent eyes, short stature and obesity.
  • Anophthalmia cleft lip palate hypothalamic disorder: A very rare inherited disorder characterized by one missing eye and one very small eye, cleft lip, cleft palate and high levels of thyroid-stimulating hormone.
  • Anophthalmia plus syndrome: An extremely rare disorder characterized by absent or very small eyes, underdeveloped ears and other facial anomalies.
  • Anophthalmia with pulmonary hypoplasia: A rare disorder characterized by absent or very small eyes and underdeveloped lung tissue.
  • Anophthalmia/microphthalmia -- esophageal atresia: A rare disorder characterized by esophageal and genital defects as well as absent or very small eyes.
  • Anophthalmos: A rare defect where one or both eyes are absent. The amount of eye socket tissue affected is variable.
  • Anophthalmos with limb anomalies: A rare disorder characterized by absent eyes
  • Anorchia: A congenital abnormality where one or both testes are missing at birth.
  • Anorchidia: A rare birth defect where the testes are absent. The testes may regress at any stage of fetal development. The stage of fetal growth at which the testes regress will affect the presentation of the disorder at birth. The presentation at birth may range from varying degrees of genital ambiguity with streak gonads.
  • Anorectal Malformations: Any condition which is a malformation of the normal anatomical design of the anorectum
  • Anorectal atresia: Congenital malformation where the anal or rectal opening is obstructed. The malformation is often associated with other abnormalities.
  • Anotia: The absence of the outer visible part of one or both ears at birth
  • Anotia -- facial palsy -- cardiac defect: A rare syndrome characterized mainly missing ears, facial weakness and congenital heart defects.
  • Anti-plasmin deficiency, congenital: A very rare inherited blood disorder involving a deficiency of antiplasmin which results in excessive bleeding.
  • Antigen-peptide-transporter 2 deficiency: A rare inherited disorder where an immunological defect increases a persons risk of vasculitis and bronchopneumopathy.
  • Antigen-peptide-transporter deficiency: A rare inherited disorder where an immunological defect increases a persons risk of vasculitis and bronchopneumopathy.
  • Antithrombin Deficiency, type II: Type II Antithrombin deficiency refers the malfunction of a substance that inactivates enzymes involved in blood coagulation. Antithrombin prevents the blood from clotting too readily and if it is unable to function properly then the blood becomes more prone to clotting which can result in severe problems. Severity of the condition can vary amongst patients and the symptoms can vary considerably depending on the location of blood clots and size of the blood clot. Type II is an inherited condition.
  • Antithrombin III deficiency, congenital: A rare blood disorder where a congenital deficiency of antithrombin III causes excessive blood coagulation which results in blood clot formation.
  • Antley-Bixler Syndrome: A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities.
  • Antley-Bixler-like syndrome -- ambiguous genitalia -- disordered steroidogenesis: A rare genetic disorder involving a deficiency of an enzyme (cytochrome P450 oxidoreductase) which causes steroid abnormalities. The condition results in ambiguous genitalia in females due to excessive androgen during fetal growth. Patients can also have the bone symptoms of Antley-Bixler syndrome.
  • Anton-Vogt syndrome: A congenital disorder where a brain anomaly results in involuntary purposeless movements (choreathetosis). Excitement and activity can make symptoms worse.
  • Aortic arch anomaly with peculiar facies and mental retardation: A very rare syndrome characterized by mental retardation, characteristic facial anomalies and abnormal position of the aorta.
  • Aortic arch interruption: A rare genetic birth defect where a portion of the aortic arch is missing or discontinued which severely impairs the flow of oxygenated blood to the lower body.
  • Aortic arches defect: A defect in the top part of the aorta (aortic arch) that consists of several arterial branches. There is a variety of defects that can occur and symptoms will be determined by the particular defect involved. Possible types of defects includes aortic coarctation and aortic arch hypoplasia.
  • 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.
  • Apelt-Gerkin-Lenz Syndrome: A rare inherited syndrome characterized by clefting of the lip and palate as well as the absence of variable portions of all of the limbs.
  • Apert syndrome: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Aphakia, congenital primary: The absence of the lens of the eye at birth
  • Aphalangia -- syndactyly -- microcephaly: A very rare syndrome characterized by the absence of one or more bones of the fingers and toes, a small head and fusion of fingers.
  • Aphalangy -- hemivertebrae -- urogenital-intestinal dysgenesis: A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs.
  • Aplasia cutis congenita dominant: A rare, dominantly inherited disorder characterized by the congenital absence of skin layers on parts of the skull.
  • Aplasia cutis congenita of limbs recessive: A very rare syndrome characterized by a localized absence of skin on the limbs. The extent of the malformation is variable and but it often heals with scarring.
  • Aplasia of lacrimal and salivary glands: A rare inherited disorder involving the absence of the salivary and tear-producing glands.
  • Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails: A rare syndrome characterized by the underdevelopment or absence of the pelvis, thigh bone, shin bone and ulna (forearm bone) as well as digital and nail abnormalities.
  • Apo A-I deficiency: Low plasma HDL cholesterol that tends to run in families.
  • Apolipoprotein C 2I deficiency: A rare inherited condition where a deficiency of apolipoprotein C-II impairs lipoprotein metabolism and results in a build up of chylomicrons and VLDL.
  • 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.
  • Arachnodactyly -- Intellectual Deficit -- Dysmorphism: A rare condition characterized by long thin digits, reduced intelligence characteristic facial appearance.
  • Arachnodactyly -- mental retardation -- dysmorphism: A very rare syndrome characterized by mental retardation, unusual facial features and long, thin fingers and toes.
  • Arakawa syndrome 1: An inherited metabolic disorder where an enzyme deficiency (glutamate formiminotrransferase) causes mental and physical retardation and degeneration of brain tissue.
  • Arakawa's syndrome 2: An inherited metabolic disorder where an enzyme deficiency (methionine synthase) causes mental and physical retardation, blood disorders, degeneration of brain tissue and various other symptoms.
  • Arena synddrome:
  • Arena syndrome: A rare disorder characterized by mental retardation, spastic paraplegia and iron deposits in part of the brain that controls movement (basal ganglia).
  • Arginase deficiency: A very rare urea cycle disorder caused by a deficiency of the enzyme (arginase) needed to convert ammonia to the urea which can then be removed in the urine. The condition leads to excess build-up of ammonia in the body which is toxic to the nervous system.
  • Arginine-glycine amidinotransferase deficiency: A rare enzyme deficiency which manifests as mental retardation, developmental delay and speech problemss
  • Argininosuccinase lyase deficiency, late onset: A rare inherited urea cycle disorder caused by lack of enzymes (argininosuccinase lyase) needed to turn ammonia into urea resulting in excess ammonia in the body. The late onset form of the condition tends to start later in life as there is some level of activity by the defective enzyme. The condition tends to be less severe and can be triggered by a change in diet, illness or some other stress on the body.
  • Argininosuccinase lyase deficiency, neonatal: A rare inherited urea cycle disorder caused by lack of enzymes (argininosuccinase lyase) needed to turn ammonia into urea resulting in excess ammonia in the body. The neonatal form of the condition can result in death or severe complications if not treated early enough.
  • Argininosuccinic aciduria: A rare inherited disorder of the urea cycle characterized by the lack of an enzyme (argininosuccinate lyase) which is needed to remove nitrogen from the body so a lack of the enzyme leads to a build-up of ammonia in the blood.
  • Arginninosuccinic acid synthetase deficiency:
  • Arhinia, choanal atresia, and microphthalmia: A very rare syndrome characterized by small eyes, choanal atresia (blocked nasal passages) and arhinia (absence of nose and parts of the olefactory system).
  • Arhinia-choanal atresia-microphthalmia syndrome: A very rare syndrome characterized by small eyes, choanal atresia (blocked nasal passages) and arhinia (absence of nose and parts of the olefactory system).
  • Arima syndrome: A rare disorder characterized mainly by eye and brain abnormalities.
  • Armendares syndrome: A rare syndrome characterized mainly by retarded growth and facial, skull and eye abnormalities.
  • Arnold-Chiari Malformation (Type 1): A rare malformation where the base of the brain enters into the upper spinal canal.
  • Arnold-Chiari Syndrome: Malformation of the brain which leads to herniation of the cerebellar tonsils and the medulla into the foramen magnum.
  • Arnold-Chiari malformation type 2: A rare malformation where the base of the brain enters into the upper spinal canal. The extent of the deformity is greater in type 2 than type 1 and hence the symptoms are more severe and are often associated with a myelomeningocele (opening of the spine and spinal cord).
  • Arnold-Chiari malformation type 3: An extremely rare malformation where the base of the brain enters into the upper spinal canal. Type 3 involves the herniation of brain or brain stem tissue out of the back of the neck or head. The condition generally has a poor prognosis.
  • Arnold-Chiari malformation type 4: Arnold-Chiari malformation is a rare malformation where the base of the brain enters into the upper spinal canal. Type 4 actually involves a lack of development of a portion of the base of the brain (cerebellum). The prognosis is very poor with death often occurring during infancy.
  • Aromatase deficiency: A congenital deficiency of the enzyme called aromatase which is needed to convert androgens to estrogens.
  • Aromatic amino acid decarboxylase deficiency: A rare inborn error of metabolism involving the deficiency of an enzyme (aromatic L-amino acid decarboxylase) needed to process aromatic amino acids. This results in a deficiency of neurotransmitters such as dopamine and serotonin. The condition manifests as movement and neurological problems.
  • Arrhinia: Absence of the nose at birth.
  • Arroyo -- Garcia -- Cimadevilla syndrome: A rare syndrome characterized mainly by absent eyes, undescended right testicle and the esophageal opening is closed off.
  • Arterial calcification of infancy: A rare disorder involving widespread calcification of arteries which obstructs blood flow.
  • Arterial occlusive disease, progressive -- hypertension -- heart defects -- bone fragility -- brachysyndactyly: A rare syndrome characterized by narrowing or blockage of a number of arteries (in the kidneys, abdomen, brain and heart) as well as fragile bones, heart defects and finger abnormalities. Fractures and high blood pressure often start during the first years of life.
  • Arteriovenous Malformation: Birth defect of a tangle of veins and arteries.
  • Arthrogryposis -- epileptic seizures -- migrational brain disorder: A rare disorder characterized by congenital joint contractures, epileptic seizures and brain development abnormalities. It can be caused by fetal exposure to alcohol or chemical products.
  • Arthrogryposis -- hyperkeratosis, lethal form:
  • Arthrogryposis -- ophthalmoplegia -- retinopathy: A very rare syndrome characterized by congenital contractures of the hands and feet as well as eye problems.
  • Arthrogryposis IUGR thoracic dystrophy: A very rare syndrome characterized by congenital joint contractures, intrauterine growth retardation (IUGR) and ribcage abnormalities.
  • Arthrogryposis multiplex congenita -- pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
  • Arthrogryposis multiplex congenita neurogenic type: A rare non-progressive syndrome characterized by congenital contractures that originates from a nerve problem (spinal motor neuron depletion).
  • Arthrogryposis multiplex congenita type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
  • Arthrogryposis multiplex congenita, distal type 1: A form of arthrygryposis (congenital contractures) which tends to affect mainly the distal parts of limbs (hands and feet). The degree of limb involvement is variable.
  • Arthrogryposis multiplex congenita, distal, X-linked: A rare condition characterized by the presence of contractures at birth as well as various other anomalies. The condition is X-linked.
  • Arthrogryposis multiplex with deafness, inguinal hernias, and early death: A rare syndrome characterized multiple joint contractures throughout the body, deafness, inguinal hernias and death usually within months of birth.
  • Arthrogryposis, distal, type 2A: A form of distal arthrogryposis (joint contractures in ends of limbs) that involves additional symptoms such as facial and spinal anomalies.
  • Arthrogryposis, distal, type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
  • Asahi I dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Asahi I type was discovered in Asahi I.
  • Ashley syndrome: A rare syndrome characterized mainly by an unusual facial appearance and muscle and skeletal abnormalities.
  • Aspartylglucosaminidase deficiency: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglycosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Asphyxiating Thoracic Dystrophy: A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
  • Asphyxiating Thoracic Dystrophy 2: Asphyxiating thoracic dystrophy is rare syndrome characterized mainly by abnormal development of the ribcage The ribcage is restricted to the point where breathing is impaired and death during infancy is a common occurrence. Type 2 is linked to a defect on chromosome 15q13.
  • Asphyxiating Thoracic Dystrophy 3: Asphyxiating thoracic dystrophy is rare syndrome characterized mainly by abnormal development of the ribcage The ribcage is restricted to the point where breathing is impaired and death during infancy is a common occurrence. Type 3 is linked to a defect on chromosome 11q13.5.
  • Asternia: Congenital absence of the sternum (breastbone).
  • Asternia with Cardiac, Diaphragmatic, and Abdominal defects: A rare disorder characterized by the congenital absence of the sternum (bone that joins the two sides of the ribcage) as well as defects involving the heart, diaphragm and the abdomen.
  • 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.
  • Asymbolia for pain: A rare inherited anomaly where a person has no pain sensation - the patient is unable to feel physical pain. Patients can be prone to severe injuries as they are unable to detect if they've been injured or have a broken bone.
  • Ataxia spastic congenital miosis: A rare, dominantly inherited disorder characterized mainly by ataxia, spasticity and small pupils that respond poorly to light.
  • Ataxia, spastic with congenital miosis: A rare disorder characterized by movement problems of the limbs as well as an impaired pupil reaction to light (miosis).
  • Ataxia-oculomotor apraxia syndrome: A nerve disorder which affects the motor nerves and results in movement problems which includes the eyes. Gait problems are usually the first symptom and this is followed by speaking difficulty, intention tremor and then eye movement problems.
  • Atelosteogenesis Type III: A very rare inherited skeletal ossification disorder. Unlike types I and II, survival past infancy is possible in type III.
  • Atelosteogenesis, type 1: A rare genetic disorder characterized by bone formation abnormalities, short stature and early death.
  • Atelosteogenesis, type 2: A very rare inherited skeletal disorder involving the bone and cartilage and resulting in various bone abnormalities.
  • Athelia: A birth defect where one or both nipples are absent. It is often associated with other abnormalities.
  • Athyrotic hypothyroidism sequence: A rare congenital disorder characterized by a thyroid gland defect.
  • Atkin-Flatiz syndrome: A rare, X-linked syndrome characterized mainly by mental retardation and facial anomalies.
  • Atlanto-Axial Fusion: A congenital anomaly where the first neck vertebrae is fused to the skull.
  • Atransferrinemia: A rare inherited condition characterized by the absence of a compound called transferring which results in a buildup of iron in the body's tissues as well as anemia.
  • Atresia of small intestine: A rare birth defect where developmental abnormalities result in a part of the small intestine being completely absent or blocked.
  • Atresia of urethra: A rare congenital malformation where the urethra ends blindly which makes it unuseable by the body to eliminate urine. This usually results in death unless surgical intervention provides alternative communication between the bladder and the amniotic sac. In rare cases, there is an abnormal opening between the bladder and the rectum which allow the urine to drain. The inability of the fluid to pass out of the body of the fetus results in a reduced amount of amniotic fluid which in turn affects the development of the lungs.
  • Atrial Septal Defect: An abnormal connection between the 2 atria, or upper chambers of the heart
  • Atrial Septal Defect 3: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 3 is caused by a mutation on chromosome 14q12. There are no other heart abnormalities associated with the condition.
  • Atrial Septal Defect 4: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 4 is caused by a mutation on chromosome 7p15-p14. There are no other heart abnormalities associated with the condition.
  • Atrial Septal Defect 5: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 5 is caused by a mutation on chromosome 15q14. There are no other heart abnormalities associated with the condition.
  • Atrial Septal Defect 6: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 6 is caused by a mutation on chromosome 4q32-q33.
  • Atrial septal defect 1: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 1 is caused by a mutation on chromosome 6p21.3.
  • Atrial septal defect 2: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 2 is caused by a mutation on chromosome 8p23.1-p22.
  • Atrial septal defect atrioventricular conduction: An inherited heart condition involving a heart malformation (atrial septal defect) and abnormal electrical signals between the atrium and ventricle of the heart (atrioventricular conduction defect).
  • Atrioventricular Septal Defects: Defect in the wall between the atrium and ventricle.
  • Atrioventricular septal defect: A congenital heart defect where the valves and walls between the upper and lower heart chambers (atrial and ventricular septa and the atrioventricular valves) don't develop properly. Symptoms are determined by the severity of the malformation.
  • Attenuated congenital adrenal hyperplasia: A late onset form of congenital adrenal hyperplasia where insufficient adrenal corticosteroids are produced by the body due to the deficiency of a particular chemical. The severity of symptoms varies from person to person and onset may occur as early as childhood.
  • Atypical coarctation of aorta: Coarctation of the aorta is a rare inherited birth defect where the heart blood vessel called the aorta has a narrowed area which affects blood flow. The degree of constriction is variable which mild cases asymptomatic until adulthood. The poor blood flow to the lower body gives results in it appearing less developed than that upper body. The atypical form of the condition involves the abdominal aorta, the ascending aorta or the descending thoracic aorta. The disease may be a congenital anomaly, caused by arteritis or associated with conditions such as Williams syndrome and neurofibromatosis.
  • Aughton syndrome: A very rare syndrome characterized primarily by small eyes, cleft palate, mental retardation and dextrocardia (heart located on right side of chest instead of left).
  • Aural atresia -- multiple congenital anomalies -- mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
  • Auralcephalosyndactyly: A very rare syndrome characterized by ear abnormalities, premature fusion of skull bones and syndactyly (fusion of digits).
  • Auricular abnormalities -- cleft lip with or without cleft palate -- ocular abnormalities: A rare syndrome characterized by the association of external ear and eye abnormalities, cleft lip and sometimes a cleft palate.
  • Auriculo-condylar syndrome: A rare syndrome characterized by variable ear and jaw abnormalities.
  • Auriculoocular anomalies -- cleft lip: A very rare syndrome characterized by the association of abnormal external ears and a cleft lip and sometimes a cleft palate. Only two cases of the condition has been reported.
  • Ausems Wittebol-Post Hennekam syndrome: A very rare syndrome characterized by the association of a cleft lip with retinal problems.
  • Autoimmune thyroid disease associated Celiac Disease: Patients with autoimmune thyroid disease are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Autosomal Recessive Tetra-Amelia: A rare disorder characterized by the absence of all four extremities as well as skeletal, nervous system, craniofacial and other abnormalities. The condition is causes death before or soon after birth.
  • Autosomal recessive nonsyndromic congenital nuclear cataract: A rare recessively inherited type of congenital cataract that is not associated with any other abnormality.
  • Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities: A rare syndrome characterized mainly by skeletal abnormalities, excess fluid inside the skull and eye anomalies.
  • Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss: A rare syndrome characterized mainly by heart defects, hearing impairment and a congenital eye disorder called Axenfeld-Rieger anomaly.
  • Axenfeld-Rieger syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities. The range of symptoms that can occur is somewhat variable.
  • Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
  • BBB syndrome, X-linked: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner. Females with type I tend to have few if any symptoms - often the only symptom is wide-set eyes.
  • BEEC: A rare syndrome characterized by a birth defect where the bladder is inside out and protrudes from the lower abdominal wall. The urethra and genitals are also abnormally formed. The degree of malformation is variable.
  • BOR syndrome: A rare genetic disorder characterized by hearing loss, kidney malformations and branchial arch anomalies. There are two subtypes with different genetic defect origins.
  • BOR-Duane hydrocephalus contiguous gene syndrome: A very rare syndrome characterized primarily by an eye movement disorder (Duane syndrome), abnormal trapezius muscle (runs from neck to shoulder), hydrocephalus and BOR syndrome (branchio-oto-renal syndrome with branchial, eye and kidney abnormalities).
  • Baber's syndrome: A very rare syndrome characterized by the association of congenital liver cirrhosis with Fanconi syndrome.
  • Baby rattle pelvic dysplasia: A lethal bone development disorder.
  • Baetz-Greenwalt syndrome: A rare condition where an infant is born with an underdeveloped right side of the heart which prevents the heart from pumping blood efficiently to the lungs.
  • Baker-Winegrad disease: A very rare syndrome caused by a deficiency of the enzyme fructose-1-6-diphosphatase which impairs the body's ability to break down fructose that is consumed in the diet.
  • Baller-Gerold Syndrome: A rare syndrome characterized by premature fusion of skull bones and radial defects. Variable other abnormalities may be present.
  • Baltimore dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Baltimore type was discovered in Baltimore.
  • Bamforth syndrome: A rare syndrome characterized mainly by the association of an abnormal opening in the roof of the mouth and reduced thyroid functioning.
  • Banki syndrome: A rare disorder characterized by abnormal curvature of fingers, thin middle sections of long bones, fusion of certain wrist bones (lunate and cuneiform bones) and other hand abnormalities.
  • Baraitser burn fixen syndrome: A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face.
  • Baraitser-Winter syndrome: A rare syndrome characterized by a structural eye defect, droopy eyelids and mental retardation.
  • Bardet-Biedl Syndrome: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities.
  • Bardet-Biedl syndrome, type 1: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13.
  • Bardet-Biedl syndrome, type 10: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q.
  • Bardet-Biedl syndrome, type 11: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1.
  • Bardet-Biedl syndrome, type 12: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27.
  • Bardet-Biedl syndrome, type 2: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21.
  • Bardet-Biedl syndrome, type 3: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13.
  • Bardet-Biedl syndrome, type 4: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3.
  • Bardet-Biedl syndrome, type 5: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31.
  • Bardet-Biedl syndrome, type 6: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12.
  • Bardet-Biedl syndrome, type 7: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27.
  • Bardet-Biedl syndrome, type 8: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11.
  • Bardet-Biedl syndrome, type 9: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14.
  • Barnicoat-Baraitser syndrome: A rare syndrome characterized mainly by extra digits and excessive growth resulting in an increased birth weight and size.
  • Barrow-Fitzsimmons Syndrome: A rare (only one reported case) inherited condition characterized by short limbs, an unusual facial appearance and congenital heart disease.
  • Bartsocas Papa syndrome: A rare condition characterized by webbing of skin as well as various other physical and mental abnormalities.
  • Bartter Syndrome: A rare genetic disorder of kidney metabolism characterized by reduced blood acidity and low potassium levels.
  • Bartter Syndrome type 4: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4 also involves sensorineural deafness.
  • Bartter Syndrome type 4A: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4A also involves sensorineural deafness.
  • Bartter Syndrome type 4B: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4B also involves sensorineural deafness.
  • 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.
  • Bartter's syndrome, type 3: A rare condition characterized by an electrolyte imbalance caused by mutations of the chloride channel gene (ClCNKb). It differs from Bartter's syndrome type I and type II in the absence of nephrocalcinosis. The severity of the condition is greatly variable.
  • 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.
  • Basaran-Yilmaz syndrome: A very rare syndrome characterized by reduced body hair, thickened skin on various parts of the body and the presence of white nails at birth.
  • Batten Disease: Rare childhood genetic degenerative nerve system disease.
  • Batten-Turner muscular dystrophy: A benign form of congenital muscular dystrophy involving relatively minor muscle wasting. The condition progresses slowly until adulthood.
  • Bd syndrome: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
  • Beals syndrome: A rare genetic connective tissue disorder characterized by joint contractures, arachnodactyly and a crumpled appearing ear.
  • Beare-Stevenson cutis gyrate syndrome:
  • Becker nevus syndrome: A rare disorder characterized by a pigmented hairy skin patch associated with skin, muscle or bone defects on the same side of the body as the skin lesion.
  • Beemer-Ertbruggen syndrome: A rare lethal syndrome characterized primarily by hydrocephalus, heart malformations, and increased bone density. Only a couple of cases have been reported.
  • Beemer-Langer syndrome: A very rare inherited condition characterized by a number of congenital abnormalities and death generally occurs during early infancy.
  • 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.
  • Benign congenital hypotonia: A rare condition where an infant has a severe lack of muscle tone which progressively improves and usually disappears within 10 years.
  • Bentham-Driessen-Hanveld syndrome: A rare syndrome characterized mainly by the association of undescended testes, long thin fingers and mental retardation.
  • Beradinelli-Seip congenital lipodystrophy:
  • Berardinelli-Seip congenital lipodystrophy: A rare genetic disorder characterized by diabetes mellitus, loss of body fat, hepatomegaly, enlarged genitals, increased skeletal growth and other abnormalities.
  • Berardinelli-Seip congenital lipodystrophy, type 1: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 1 is distinguished from type 2 by the origin of the genetic defect. Type 1 is caused by a defect on the AGPAT2 gene on chromosome 9q34.3. Type 1 seems to be less severe with some cases of type 2 resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
  • Berardinelli-Seip congenital lipodystrophy, type 2: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 2 is distinguished from type 2 by the origin of the genetic defect. Type 2 is caused by a defect on the BSCL2 gene on chromosome 11q13. Type 2 seems to be more severe with some cases resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
  • Berndorfer syndrome: A rare syndrome characterized mainly by a cleft palate, harelip and cleft hands and feet.
  • Beta Thalassemia intermedia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. There are two subtypes of the disorder (alpha and beta) depending on what portion of the hemoglobin is abnormally synthesized. Beta Thalassemia intermedia involves defects in both of the two genes required to make each ? protein chain. The condition causes varying degrees of moderate anemia.
  • Beta Thalassemia trait: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. There are two subtypes of the disorder (alpha and beta) depending on what portion of the hemoglobin is abnormally synthesized. Beta Thalassemia trait involves defects in one of the two genes required to make each ? protein chain. Mild anemia is usually the only symptom.
  • Beta ketothiolase deficiency: A rare inherited disease characterized by the bodies inability to metabolise certain amino acids and products of the breakdown of fat. Harmful levels of organic acids build up in the body and cause ketoacidic attacks.
  • Beta thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Beta thalassemia involves defects in one or more of the two genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Beta-Glutamylcysteine synthetase deficiency: A rare disorder of amino acid metabolism where deficiency of the enzyme called Beta-Glutamylcysteine synthetase impairs the body's ability to metabolize sulfur-containing amino acids.
  • Beta-mannosidosis: A very rare type of inherited glycoprotein storage disease where deficiency of an enzyme called beta-mannosidase results in a build-up of certain sugars (oligosaccharides) which can harm the body.
  • Beta-ureidopropionase deficiency: A metabolic disorder where the deficiency of an enzyme (Beta-ureidopropionase) results mainly in neurological abnormalities such as mental retardation. The symptoms are variable however.
  • Bethesda I dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Bethesda I type was discovered in Bethesda.
  • Bethesda II dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Bethesda II type was discovered in Bethesda.
  • Bicuspid aortic valve: A heart defect where the aortic valve has only two leaflets instead of the normal three. The severity of the disorder is variable.
  • Bielschowsky disease: An eye disorder where one eye tends to drift upwards while the other remains fixed.
  • Biemond Syndrome: A rare genetic disorder characterized by nystagmus, cerebellar ataxia and short digits.
  • Biemond syndrome type 1: A rare inherited condition characterized by mental retardation, finger and toe abnormalities, obesity and eye problems.
  • Biemond syndrome type 2: A rare inherited condition characterized by mental retardation, obesity, polydactyly and underdeveloped genitals.
  • Biemond syndrome type 3: A rare inherited condition characterized by the inability to feel pain as well as other anomalies.
  • Bifid nose: A bifid nose is a cleft in the nose - the degree of nasal clefting is variable. The anomaly is often associated with various syndromes and only rarely occurs as an isolated finding.
  • Bifid nose dominant: A rare inherited malformation where there is a cleft in the middle of the nose.
  • Bilateral Renal Agenesis: Failure of both kidneys to from during embryogenesis.
  • Bilateral renal agenesis dominant type: A rare birth defect where both kidneys are absent. The disorder results in death within days of birth.
  • Bile acid synthesis defect, congenital, 2: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.
  • Bile acid synthesis defect, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
  • Bile acid synthesis defects: A defect which prevents the body from making bile acid which results in progressive liver disease.
  • Bile acid synthesis defects, congenital, 1: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (3-beta-hydroxy-delta-5-C27-steroid oxidoreductase) needed to make bile acid.
  • Bile acid synthesis defects, congenital, 2: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.
  • Bile acid synthesis defects, congenital, 3: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect involved a deficiency of 7-alpha-hydroxylase which is an enzyme needed to prevent the accumulation of 27-hydroxycholesterol which is toxic to the liver.
  • Bile acid synthesis defects, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
  • Biliary atresia, intrahepatic, non syndromic form: Congenital obstruction of the passages in the liver that carry bile. The nonsyndromic form is not associated with any other abnormalities.
  • Biliary atresia, intrahepatic, syndromic form: Congenital obstruction of the passages in the liver that carry bile. The syndromic form is associated with other congenital abnormalities such as heart and visceral defects.
  • Biliary hypoplasia: An underdeveloped biliary duct system which is involved in transporting bile. The bile ductules may be completely absent or be fewer in number than normal.
  • Billet-Bear syndrome: A very rare syndrome characterized mainly by the complete or partial absence of the kidneys as well as partial duplication of the lower leg.
  • Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
  • Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
  • Biotinidase deficiency, late onset: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes. The severity of symptoms may vary depending on the degree of deficiency. Severe cases can result in metabolic acidosis which can lead to death if treatment isn't given.
  • Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Bixler-Christian-Gorlin syndrome: A very rare syndrome characterized primarily by widely spaced eyes, small ears and a clefts in the lip, palate and nose.
  • Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex: A rare disorder characterized by fetal developemental problems involving the urogenital and intestinal tract and resulting in exstrophy of the bowel and bladder.
  • Blaichman syndrome: A very rare genetic disorder characterized by a malformation where there is an opening between the trachea and esophagus. Webbing of the fifth finger is also present.
  • Bland-Garland-White syndrome: A rare birth malformation where the left coronary artery comes out of the pulmonary artery instead of the aorta. Usually, infants are usually healthy for a few months after which they start having symptoms of heart problems. Occasionally, patients may be asymptomatic even into adulthood but usually death occurs during infancy.
  • Bland-White -Garland syndrome: A heart disorder where the left coronary artery comes out of the pulmonary artery.
  • Blepharophimosis -- ptosis -- syndactyly -- mental retardation: A rare genetic disorder characterized by eye anomalies, webbed fingers and mental retardation.
  • Blepharophimosis ptosis esotropia syndactyly short: A rare disorder characterized by eye anomalies, webbed fingers and short stature.
  • Blepharophimosis syndrome Ohdo type: An extremely rare syndrome characterized primarily by mental retardation and eye anomalies. Only a handful of cases have been reported.
  • Blepharophimosis with ptosis, syndactyly, and short stature: A very rare genetic condition characterized by the association of droopy eyelids, webbed digits and short stature.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 1: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, large cylindrical nose and severe intrauterine growth retardation: A rare syndrome characterized by eye and nose anomalies as well as severely retarded fetal growth.
  • Blepharoptosis -- aortic anomaly: A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta.
  • Blepharoptosis -- cleft palate -- ectrodactyly -- dental anomalies: A rare genetic disorder characterized primarily by dental symptoms, opening in the roof of the mouth (cleft palate) and missing fingers giving the hands a claw like appearance.
  • Blethen-Wenick-Hawkins syndrome: A rare syndrome characterized mainly by short stature, skeletal abnormalities and reduced pituitary gland functioning.
  • Blomstrand syndrome: A rare lethal congenital condition characterized by abnormal bone development.
  • Bloom Syndrome: A rare genetic inherited genetic disorder which mainly affects Ashkenazic Jewish people and is characterized by short stature, malar hypoplasia, and a telangiectatic erythema of the face.
  • Blue Diaper Syndrome: A rare metabolic disorder characterized by vision problems, bluish urine, fever and digestive anomalies.

 

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