Anteverted nostrils
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 moreĀ Ā»
Cantu Sanchez-Corona Garcia-cruz syndrome
A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities....read moreĀ Ā»
CantĆŗ syndrome
A rare syndrome characterized mainly by excessive growth of hair, enlarged heart and abnormal development of bone and cartilage...read moreĀ Ā»
Cerebrorenodigital syndrome
A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities....read moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
Chromosome 8 recombinant syndrome
A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities....read moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
Chromosome 9q deletion syndrome
A rare chromosomal disorder where the long arm (q) of chromosome 9 is deleted resulting in variable symptoms....read moreĀ Ā»
Chudley syndrome 1
A rare syndrome characterized by mental retardation, obesity, hypogonadism and a distinctive mouth....read moreĀ Ā»
Collins-Dennis-Clarke-Pope Syndrome
A very rare condition characterized by congenital hip dislocation, flattened facial appearance and congenital heart defects....read moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
Corpus callosum agenesis — blepharophimosis — Robin sequence
A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms....read moreĀ Ā»
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 moreĀ Ā»
Cranio-facio-cardio-skeletal dysplasia
A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and facial and skeletal abnormalities....read moreĀ Ā»
Craniomicromelic syndrome
A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth....read moreĀ Ā»
Craniosynostosis — alopecia — brain defect
A very rare syndrome characterized mainly by a malformed skull, lack of hair and a brain defect....read moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
Cutis Laxa with Bone Dystrophy
A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....read moreĀ Ā»
Cutis Laxa with Growth and Developmental Delay
A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....read moreĀ Ā»
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 moreĀ Ā»
Cutis Laxa, Autosomal Recessive, Type IIA
A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....read moreĀ Ā»
Cutis Laxa, Debre Type
A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....read moreĀ Ā»
Cutis laxa, recessive type 2
A very rare syndrome characterized primarily by loose skin and delayed development....read moreĀ Ā»
Davis-Lafer syndrome
A very rare syndrome characterized mainly by mental retardation and unusual facial features....read moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
Dennis cohen syndrome
A rare syndrome characterized mainly by unusual facial appearance, mental retardation, short stature and sparse hair....read moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
Epiphyseal dysplasia dysmorphism camptodactyly
A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities....read moreĀ Ā»
Euhidrotic ectodermal dysplasia
A rare syndrome characterized mainly by tooth, hair and facial abnormalities....read moreĀ Ā»
FACES syndrome
A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities....read moreĀ Ā»
Faciodigitogenital syndrome, recessive form
A rare syndrome characterized by facial, digital and genital abnormalities....read moreĀ Ā»
Facioskeletalgenital syndrome, Rippberger type
A rare syndrome characterized by facial, skeletal and genital abnormalities....read moreĀ Ā»
Faciothoracogenital syndrome
A rare syndrome characterized by facial, chest and genital abnormalities....read moreĀ Ā»
Fibrochondrogenesis
A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death....read moreĀ Ā»
Frank-Ter Haar syndrome
A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities....read moreĀ Ā»
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 moreĀ Ā»
Geleophysic dwarfism
A rare genetic disorder characterized by a happy facial expression, short stature and limb abnormalities....read moreĀ Ā»
Gracile bone dysplasia
An inherited disorder characterized by brittle bones and thin, slender long bones and ribs as well as other abnormalities....read moreĀ Ā»
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 moreĀ Ā»
Hall-Riggs mental retardation syndrome
A rare inherited disorder characterized by mental retardation, distinctive facial features and various bone abnormalities....read moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
Kaplan-Plauchu-Fitch syndrome
A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities....read moreĀ Ā»
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 moreĀ Ā»
Lichstenstein syndrome
A rare syndrome characterized mainly by frequent infections, osteoporosis, weak bones and other bone abnormalities....read moreĀ Ā»
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 moreĀ Ā»
Lower limb anomaly — ureteral obstruction
A very rare syndrome characterized mainly by an obstructed ureter and a leg anomaly....read moreĀ Ā»
Lymphedema, microcephaly and chorioretinopathy syndrome
A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies....read moreĀ Ā»
Lymphoedema — Microcephaly — Chorioretinopathy Syndrome
A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies....read moreĀ Ā»
Lymphoedema — Microcephaly — chorioretinopathy
A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies....read moreĀ Ā»
MLCRD Syndrome
A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies....read moreĀ Ā»
Macrocephaly, rhizomelia and conductive hearing loss
A rare syndrome characterized by a large head, short limbs and conductive hearing loss....read moreĀ Ā»
Mental retardation — blepharophimosis — obesity — web neck
A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck....read moreĀ Ā»
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 moreĀ Ā»
Mental retardation — short stature — deafness — genital
A very rare syndrome characterized mainly by mental retardation, short stature, deafness and genital abnormalities....read moreĀ Ā»
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 moreĀ Ā»
Mental retardation, X-linked — seizures — psoriasis
A rare syndrome characterized mainly by mental retardation, seizures and a skin disorder....read moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
Microcephaly — lymphoedema — Chorioretinopathy Dysplasia Syndrome
A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies....read moreĀ Ā»
Microcephaly — lymphoedema — chorioretinopathy
A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies....read moreĀ Ā»
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 moreĀ Ā»
Microcephaly — microphthalmos — blindness
A very rare syndrome characterized mainly by a small head, small eyes and blindness....read moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
Naguib syndrome
A rare syndrome characterized mainly by wide-set eyes, hypospadias and extra fingers....read moreĀ Ā»
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 moreĀ Ā»
Nguyen syndrome
A rare disorder characterized by low blood cholesterol, mental retardation and various congenital anomalies....read moreĀ Ā»
Noonan-like syndrome
A very rare syndrome characterized mainly by heart problems, facial anomalies and a sunken chest....read moreĀ Ā»
Oculo-dento-digital dysplasia dominant
A rare disorder characterized by webbing of some fingers, small corneas, enamel abnormalities and slow-growing, dry hair....read moreĀ Ā»
Oculodigitoesophagoduodenal syndrome
A very rare syndrome characterized mainly by a small head and gastrointestinal, eye, finger, and toe abnormalities....read moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
Opitz syndrome
A rare genetic disorder characterized by wide-set eyes, hypospadias and swallowing difficulties....read moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
Piepkorn karp hickoc syndrome
A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers....read moreĀ Ā»
Plasmalogenes synthesis deficiency isolated
A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (peroxisomal dihydroxyacetonephosphate acyl transferase)....read moreĀ Ā»
Plasmalogens synthesis deficiency isolated
A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (peroxisomal dihydroxyacetonephosphate acyl transferase)....read moreĀ Ā»
Polysyndactyly — cardiac malformation
A very rare syndrome characterized mainly by an extra toe, webbed fingers and heart malformations....read moreĀ Ā»
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 moreĀ Ā»
Short ribs — craniosynostosis — polysyndactyly
A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers....read moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
Sonoda syndrome
An extremely rare disorder characterized by a congenital heart defect, round face, retarded development, short stature and various facial anomalies....read moreĀ Ā»
Spinocerebellar ataxia — dysmorphism
A rare inherited syndrome characterized by ataxia and unusual facial appearance....read moreĀ Ā»
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 moreĀ Ā»
Spondylocostal dysplasia dominant
A rare, dominantly inherited syndrome characterized mainly by rib and spine abnormalities....read moreĀ Ā»
Stalker-Chitayat syndrome
A very rare syndrome characterized mainly by abnormal rotation of the intestines and an unusual facial appearance....read moreĀ Ā»
Stevenson-Carey syndrome
A rare syndrome involving various congenital abnormalities and mental retardation....read moreĀ Ā»
Stickler Syndrome
A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities....read moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
Stickler’s syndrome
A condition which is characterized by a hereditary progressive arthro-ophthalmopathy...read moreĀ Ā»
Stoll-Geraudel-Chauvin syndrome
A very rare syndrome characterized mainly by short stature, mental retardation and wide set eyes....read moreĀ Ā»
TAU syndrome
A very rare syndrome characterized mainly by reduced blood platelet level and absent ulna bone (forearm bone)....read moreĀ Ā»
Thiele syndrome
A very rare syndrome characterized mainly by mental retardation, unusual facial appearance and a small head....read moreĀ Ā»
Thompson-Baraitser syndrome
A very rare syndrome characterized mainly by liver fibrosis, kidney cysts and mental retardation....read moreĀ Ā»
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 moreĀ Ā»
Tranebjaerg-Svejgaard syndrome
A rare syndrome characterized mainly by mental retardation, seizures and a skin disorder....read moreĀ Ā»
Type II Achondrogenesis-Hypochondrogenesis
A rare genetic disorder characterized by very small stature, abnormal bone formation and early death....read moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
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 moreĀ Ā»
Valproic acid antenatal infection
A condition which usually occurs in a fetus due to the mother taking valproic acid for epileptic seizures...read moreĀ Ā»
Vitamin K antagonists embryofoetopathy
Abnormalities and deformities that occur in infants due to exposure to oral anticoagulants during the fetal stage....read moreĀ Ā»
Waaler Aarskog syndrome
A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly)....read moreĀ Ā»
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 moreĀ Ā»
X-linked mental retardation craniofacial abnormal microcepahly club
An x-linked condition that is characterised by mental retardation and dysmorphic facies...read moreĀ Ā»
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 moreĀ Ā»
Yunis Varon syndrome
A multisystem genetic disease that affects the skeletal system in particular...read moreĀ Ā»
Looking for the patient version?
Ā© 2026 MyEClinic ā IFTM Institut fĆ¼r Telematik in der Medizin GmbH