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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Causes

  • 3C syndrome
  • Aarskog Syndrome
  • Achondrogenesis type 2
  • Acroosteolysis dominant type
  • Ampola syndrome

Aniridia -- renal agenesis -- psychomotor retardation

Arthritis -- short stature -- deafness

Atkin-Flatiz syndrome

Aural atresia -- multiple congenital anomalies -- mental retardation BBB syndrome, X-linked

Bagatelle-Cassidy syndrome

Bessel-Hagen disease

Branchial arch syndrome X-linked

A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects....read more »

Cantu Sanchez-Corona Garcia-cruz syndrome

A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities....read more »

Cantú syndrome

A rare syndrome characterized mainly by excessive growth of hair, enlarged heart and abnormal development of bone and cartilage...read more »

Cerebrorenodigital syndrome

A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities....read more »

Chromosome 1, duplication 1p21 p32

A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as short stature, newborn or fetal death, small head, undescended testes and various facial abnormalities....read more »

Chromosome 1, monosomy 1q32 q42

A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as fetal or newborn death, facial dysmorphism, short stature, finger defects and various other anomalies....read more »

Chromosome 1, trisomy 1q42 qter

A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction, short stature, mental retardation and narrowing of the pulmonary arteries and valves....read more »

Chromosome 10, Monosomy 10p Chromosome 10, distal trisomy 10q

A rare chromosomal disorder where the distal portion of the long arm of chromosome 10 is duplicated so there is three copies of it instead of the normal two. The condition is characterized by drooping upper eyelid, short palpebral fissures and camptodacty...read more »

Chromosome 10p deletion syndrome

A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities....read more »

Chromosome 11, Partial Monosomy 11q

A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted....read more »

Chromosome 12, 12p trisomy

A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted....read more »

Chromosome 12p duplication syndrome

A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted....read more »

Chromosome 12p tetrasomy syndrome

A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities....read more »

Chromosome 14q, terminal deletion

A very rare syndrome caused by a deletion of a part of the material on chromosome 14 and resulting in various abnormalities such as mental retardation and short fingers....read more »

Chromosome 14q, terminal duplication

A very rare syndrome caused by a duplication of a part of the material on chromosome 14 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation....read more »

Chromosome 16p, partial duplication

A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....read more »

Chromosome 16q, partial duplication

A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material. Severe cases often result in sponta...read more »

Chromosome 17 ring

A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic mate...read more »

Chromosome 17, deletion 17q23 q24

A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material....read more »

Chromosome 2, trisomy 2q

A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....read more »

Chromosome 20p, partial duplication

A rare chromosomal disorder where a copy of the short arm of chromosome 20 has been triplicated instead of duplicated resulting in various anomalies....read more »

Chromosome 20q duplication syndrome

A rare chromosomal disorder involving a duplication of the long arm (q) of chromosome 20 resulting in various physical and developmental abnormalities....read more »

Chromosome 21, tetrasomy 21q

A rare chromosomal disorder where there is four copies of the long arm of chromosome 21 instead of the normal two which results in various physical and mental anomalies....read more »

Chromosome 2q duplication syndrome

A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....read more »

Chromosome 3, monosomy 3p

A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and polydactyly....read more »

Chromosome 6, monosomy 6q

A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material....read more »

Chromosome 6q deletion syndrome

A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material....read more »

Chromosome 8 recombinant syndrome

A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities....read more »

Chromosome 8 ring

A rare chromosomal disorder involving chromosome 8 which causes various abnormalities such as mental retardation, ureter anomalies, finger defects and facial dysmorphism....read more »

Chromosome 8, trisomy 8q

A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted....read more »

Chromosome 8p inverted duplication syndrome

A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of th...read more »

Chromosome 8q duplication syndrome

A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted....read more »

Chromosome 9, Partial Monosomy 9p

A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities. The type and severity of symptoms is determined by the amount of genetic material that is missing....read more »

Chromosome 9, monosomy 9p

A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities....read more »

Chromosome 9, trisomy 9p

A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two....read more »

Chromosome 9p deletion syndrome

A rare genetic disorder where a portion of the genetic material from the short arm of chromosome 9 is missing. The symptoms or severity may vary somewhat between patients....read more »

Chromosome 9q deletion syndrome

A rare chromosomal disorder where the long arm (q) of chromosome 9 is deleted resulting in variable symptoms....read more »

Chudley syndrome 1

A rare syndrome characterized by mental retardation, obesity, hypogonadism and a distinctive mouth....read more »

Collins-Dennis-Clarke-Pope Syndrome

A very rare condition characterized by congenital hip dislocation, flattened facial appearance and congenital heart defects....read more »

Congenital brain dysgenesis due to glutamine synthetase deficiency

A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in severe brain malformations and infant death with...read more »

Cornelia de Lange syndrome 1

A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable....read more »

Cornelia de Lange syndrome 2

A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 2 is not as severe as type 1 with some of the abnormalities not presenting until later in life or absent altogether. The range a...read more »

Corpus callosum agenesis -- blepharophimosis -- Robin sequence

A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms....read more »

Corpus callosum, agenesis of, blepharophimosis Robin type

A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms....read more »

Cranio-facio-cardio-skeletal dysplasia

A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and facial and skeletal abnormalities....read more »

Craniomicromelic syndrome

A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth....read more »

Craniosynostosis -- alopecia -- brain defect

A very rare syndrome characterized mainly by a malformed skull, lack of hair and a brain defect....read more »

Craniosynostosis Fontaine type

A very rare disorder characterized primarily by the premature fusion of skull bones, hand, foot and stomach anomalies and a brain malformation (bilateral periventricular nodular heterotopia)....read more »

Crisponi syndrome

A very rare syndrome characterized by excessive muscle contractions in response to stimulus, claw hand, distinctive facial features and fever. Most patients die within months of birth due to complications of hyperthermia but some cases are slowly progress...read more »

Cutis Laxa with Bone Dystrophy

A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....read more »

Cutis Laxa with Growth and Developmental Delay

A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....read more »

Cutis Laxa with or without Congenital Disorder of Glycosylation

A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....read more »

Cutis Laxa, Autosomal Recessive, Type IIA

A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....read more »

Cutis Laxa, Debre Type

A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....read more »

Cutis laxa, recessive type 2

A very rare syndrome characterized primarily by loose skin and delayed development....read more »

Davis-Lafer syndrome

A very rare syndrome characterized mainly by mental retardation and unusual facial features....read more »

Del (3) (p14.2-p11)

A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree....read more »

Deletion 3p

A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and extra digits....read more »

Dennis cohen syndrome

A rare syndrome characterized mainly by unusual facial appearance, mental retardation, short stature and sparse hair....read more »

Dup (3) (q12-qter)

A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....read more »

Dup (3) (q12-qter) and del (X) (pter-p21)

A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....read more »

Dup (3) (q21-qter)

A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in fourteen reported cases. The manifestations linked to most genetic defects are often variable to some degree....read more »

Dup (3) (q25-qter)

A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in a few reported cases. The manifestations linked to most genetic defects are often variable to some degree....read more »

Epiphyseal dysplasia dysmorphism camptodactyly

A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities....read more »

Euhidrotic ectodermal dysplasia

A rare syndrome characterized mainly by tooth, hair and facial abnormalities....read more »

FACES syndrome

A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities....read more »

Faciodigitogenital syndrome, recessive form

A rare syndrome characterized by facial, digital and genital abnormalities....read more »

Facioskeletalgenital syndrome, Rippberger type

A rare syndrome characterized by facial, skeletal and genital abnormalities....read more »

Faciothoracogenital syndrome

A rare syndrome characterized by facial, chest and genital abnormalities....read more »

Fibrochondrogenesis

A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death....read more »

Frank-Ter Haar syndrome

A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities....read more »

Gaucher disease -- perinatal lethal form

A rare syndrome characterized by the association of abnormally tight skin and Gaucher disease which is a lipid storage disease. This is the most severe form of Gaucher disease....read more »

Geleophysic dwarfism

A rare genetic disorder characterized by a happy facial expression, short stature and limb abnormalities....read more »

Gracile bone dysplasia

An inherited disorder characterized by brittle bones and thin, slender long bones and ribs as well as other abnormalities....read more »

Growth Retardation, Developmental Delay, Coarse Facies and Early Death

A rare syndrome observed in a family involving related parents and characterized mainly by retarded growth, developmental delay, coarse facial appearance and early death....read more »

Hall-Riggs mental retardation syndrome

A rare inherited disorder characterized by mental retardation, distinctive facial features and various bone abnormalities....read more »

Hypertelorism -- esophageal abnormalities -- hypospadias

A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosom...read more »

Hypertelorism with esophageal abnormality and hypospadias

A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females....read more »

Hypomandibular faciocranial dysostosis

A very rare syndrome characterized mainly by very underdeveloped upper and lower jaw as well as a very small, absent or small tongue....read more »

Hypospadias -- hypertelorism

A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females....read more »

I cell disease

A rare inherited biochemical disorder characterized by the harmful accumulation of chemicals (glycoproteins and glycoplipids) due to the deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase)....read more »

Jacobsen syndrome

A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted....read more »

Joubert Syndrome 1

Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...read more »

Joubert Syndrome 2

Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...read more »

Joubert Syndrome 3

Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...read more »

Joubert Syndrome 4

Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...read more »

Joubert Syndrome 5

Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...read more »

Joubert Syndrome 6

Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...read more »

Joubert Syndrome 7

Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...read more »

Joubert Syndrome 8

Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...read more »

Kaplan-Plauchu-Fitch syndrome

A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities....read more »

Lathosterolosis

A very rare disorder where an enzyme (sterol C5-desaturase) deficiency prevents the normal synthesis of cholesterol in the body. The deficiency causes various malformations, mental retardation and liver disease....read more »

Lichstenstein syndrome

A rare syndrome characterized mainly by frequent infections, osteoporosis, weak bones and other bone abnormalities....read more »

Lissencephaly syndrome type 1

A very rare form of the brain formation disorder called lissencephaly where the brain surface is abnormally smooth rather than convoluted resulting in mental retardation. Physical malformations are also present....read more »

Lower limb anomaly -- ureteral obstruction

A very rare syndrome characterized mainly by an obstructed ureter and a leg anomaly....read more »

Lymphedema, microcephaly and chorioretinopathy syndrome

A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies....read more »

Lymphoedema -- Microcephaly -- Chorioretinopathy Syndrome

A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies....read more »

Lymphoedema -- Microcephaly -- chorioretinopathy

A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies....read more »

MLCRD Syndrome

A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies....read more »

Macrocephaly, rhizomelia and conductive hearing loss

A rare syndrome characterized by a large head, short limbs and conductive hearing loss....read more »

Mental retardation -- blepharophimosis -- obesity -- web neck

A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck....read more »

Mental retardation -- hypotonic facies syndrome, X-linked, 1

A group of rare syndromes characterized by severe mental retardation, unusual facial appearance and other variable abnormalities....read more »

Mental retardation -- short stature -- deafness -- genital

A very rare syndrome characterized mainly by mental retardation, short stature, deafness and genital abnormalities....read more »

Mental retardation unusual facies ampola type

A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities....read more »

Mental retardation, X-linked -- seizures -- psoriasis

A rare syndrome characterized mainly by mental retardation, seizures and a skin disorder....read more »

Mental retardation, X-linked, Stoll type

A rare disorder characterized by mental retardation, short stature and unusual facial appearance. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no sym...read more »

Mental retardation, X-linked, Wittwer type

A rare disorder characterized by severe mental retardation, retarded growth, seizures and vision and hearing problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers ma...read more »

Microcephalic osteodysplastic primordial dwarfism, type 2

A very rare syndrome characterized mainly by growth problems before and after birth as well as various skeletal and facial anomalies....read more »

Microcephaly -- lymphoedema -- Chorioretinopathy Dysplasia Syndrome

A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies....read more »

Microcephaly -- lymphoedema -- chorioretinopathy

A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies....read more »

Microcephaly -- mesobrachyphalangy -- tracheoesophageal fistula syndrome

A very rare syndrome characterized by an abnormally small head, short fingers and an abnormal opening between the trachea and esophagus....read more »

Microcephaly -- microphthalmos -- blindness

A very rare syndrome characterized mainly by a small head, small eyes and blindness....read more »

Microcephaly -- oculo-digito-esophageal-duodenal syndrome (MODED)

A very rare syndrome characterized mainly by a small head and gastrointestinal, eye, finger, and toe abnormalities....read more »

Midface hypoplasia, corneal clouding, subvalvular aortic stenosis and mental and somatic retardation

A rare syndrome characterized mainly by an underdeveloped midface, corneal clouding, mental and somatic retardation and narrowed aorta....read more »

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

A condition where abnormal function of the bone marrow results in insufficient production of normal blood cells. The disorder is caused by the deletion of genetic material from chromosome 5q....read more »

Naguib syndrome

A rare syndrome characterized mainly by wide-set eyes, hypospadias and extra fingers....read more »

Nasopharyngeal teratoma with Dandy-Walker -- diaphragmatic hernia

A very rare syndrome characterized mainly by a nasopharyngeal tumor, diaphragmatic hernia and the Dandy-Walker anomaly (brain cyst)....read more »

Nguyen syndrome

A rare disorder characterized by low blood cholesterol, mental retardation and various congenital anomalies....read more »

Noonan-like syndrome

A very rare syndrome characterized mainly by heart problems, facial anomalies and a sunken chest....read more »

Oculo-dento-digital dysplasia dominant

A rare disorder characterized by webbing of some fingers, small corneas, enamel abnormalities and slow-growing, dry hair....read more »

Oculodigitoesophagoduodenal syndrome

A very rare syndrome characterized mainly by a small head and gastrointestinal, eye, finger, and toe abnormalities....read more »

Opitz G Syndrome

A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosom...read more »

Opitz G/BBB Syndrome

A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosom...read more »

Opitz G/BBB Syndrome, X-linked

A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autoso...read more »

Opitz G/BBB Syndrome, type I

A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autoso...read more »

Opitz G/BBB syndrome, Autosomal dominant

A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autoso...read more »

Opitz syndrome

A rare genetic disorder characterized by wide-set eyes, hypospadias and swallowing difficulties....read more »

Opitz syndrome , X-linked

A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females....read more »

Perinatal-lethal Gaucher disease

A disorder caused by a deficiency of an enzyme called glucocerebrosidase. The foetal form is one of several forms of Gaucher disease and is the rarest. The fetal form causes death before birth or soon after....read more »

Piepkorn karp hickoc syndrome

A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers....read more »

Plasmalogenes synthesis deficiency isolated

A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (peroxisomal dihydroxyacetonephosphate acyl transferase)....read more »

Plasmalogens synthesis deficiency isolated

A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (peroxisomal dihydroxyacetonephosphate acyl transferase)....read more »

Polysyndactyly -- cardiac malformation

A very rare syndrome characterized mainly by an extra toe, webbed fingers and heart malformations....read more »

Rhizomelic chondrodysplasia punctata, type 2

A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (glyceronephosphate O-Acyl transferase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 1q42...read more »

Short ribs -- craniosynostosis -- polysyndactyly

A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers....read more »

Simpson-Golabi-Behmel syndrome, type 2

A rare genetic disorder characterized by hydrops fetalis and various other severe abnormalities. The condition usually results in death within two months of birth....read more »

Smith-Lemli-Opitz Syndrome

A rare genetic condition involving a severe defect in the process of cholesterol synthesis resulting in low cholesterol levels in cells but high levels of the chemicals that are made into cholesterol....read more »

Sonoda syndrome

An extremely rare disorder characterized by a congenital heart defect, round face, retarded development, short stature and various facial anomalies....read more »

Spinocerebellar ataxia -- dysmorphism

A rare inherited syndrome characterized by ataxia and unusual facial appearance....read more »

Spondylocostal dysostosis, autosomal recessive 1

A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities. This form is severe and often results in infant death....read more »

Spondylocostal dysplasia dominant

A rare, dominantly inherited syndrome characterized mainly by rib and spine abnormalities....read more »

Stalker-Chitayat syndrome

A very rare syndrome characterized mainly by abnormal rotation of the intestines and an unusual facial appearance....read more »

Stevenson-Carey syndrome

A rare syndrome involving various congenital abnormalities and mental retardation....read more »

Stickler Syndrome

A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities....read more »

Stickler Syndrome, type I

A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 1 is caused by a genetic defect on chromosome 12q13.11-q13.2...read more »

Stickler Syndrome, type II

A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 2 is caused by a genetic defect on chromosome 1p21...read more »

Stickler Syndrome, type III

A rare genetic disorder characterized by joint problems, distinctive facial characteristics and ear abnormalities. Type 3 is caused by a genetic defect on chromosome 6q21.3. Type 3 doesn't involve any of the eye problems that occur in type 1 and 2....read more »

Stickler's syndrome

A condition which is characterized by a hereditary progressive arthro-ophthalmopathy...read more »

Stoll-Geraudel-Chauvin syndrome

A very rare syndrome characterized mainly by short stature, mental retardation and wide set eyes....read more »

TAU syndrome

A very rare syndrome characterized mainly by reduced blood platelet level and absent ulna bone (forearm bone)....read more »

Thiele syndrome

A very rare syndrome characterized mainly by mental retardation, unusual facial appearance and a small head....read more »

Thompson-Baraitser syndrome

A very rare syndrome characterized mainly by liver fibrosis, kidney cysts and mental retardation....read more »

Thrombocytopenia -- Robin sequence

A very rare syndrome characterized by a variety of abnormalities such as short stature, unusual hair, reduced blood platelets, heart defects and tooth enamel anomaly....read more »

Tranebjaerg-Svejgaard syndrome

A rare syndrome characterized mainly by mental retardation, seizures and a skin disorder....read more »

Type II Achondrogenesis-Hypochondrogenesis

A rare genetic disorder characterized by very small stature, abnormal bone formation and early death....read more »

Unusual facies and autosomal dominant hypohidrotic ectodermal dysplasia

A rare syndrome characterized mainly by an unusual facial appearance and hair, nail, teeth and sweating abnormalities....read more »

Unusual facies, hepatic fibrosis, renal cysts and mental retardation

A rare syndrome characterized mainly by liver fibrosis, unusual facial appearance, kidney cysts and mental retardation....read more »

Unusual facies, oligodontia and precocious choroid calcifications

A rare syndrome characterized mainly by an unusual facial appearance, missing teeth and calcification of part of the brain called the choroid plexus....read more »

Valproic acid antenatal infection

A condition which usually occurs in a fetus due to the mother taking valproic acid for epileptic seizures...read more »

Vitamin K antagonists embryofoetopathy

Abnormalities and deformities that occur in infants due to exposure to oral anticoagulants during the fetal stage....read more »

Waaler Aarskog syndrome

A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly)....read more »

Weaver like syndrome

A rare genetic syndrome characterized by a large mouth, unusual facial features, skeletal anomalies and other abnormalities. The disorder is similar to another genetic disorder called Weaver syndrome but tends to involve endocrinologic abnormalities as we...read more »

X-linked mental retardation craniofacial abnormal microcepahly club

An x-linked condition that is characterised by mental retardation and dysmorphic facies...read more »

X-linked mental retardation craniofacial abnormal microcephaly club

A rare inherited disorder characterized by mental retardation, small head, club foot and facial and skull abnormalities. The condition is inherited in a X-linked manner and thus only males present with the full severity of the symptoms. Female carriers ma...read more »

Yunis Varon syndrome

A multisystem genetic disease that affects the skeletal system in particular...read more »

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