ODCs

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3 OMIM references -
2 associated genes
7 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
26 signs/symptoms

Van der Woude syndrome

Autosomal dominant popliteal pterygium syndrome

GRHL3	(UniProt - OMIM)		IRF6	(UniProt - OMIM)
IRF6	(UniProt - OMIM)

Citations in the biomedical literature:

Van der Woude syndrome		Autosomal dominant popliteal pterygium syndrome
	Synonym(s): - Cleft lip and/or palate with mucous cysts of lower lip - Lip-pit syndrome - VWS		Synonym(s): - Facio-genito-popliteal syndrome - Popliteal web syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 3 OMIM references - 1 MeSH reference: C536528		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Lip pits / fistulae

Van der Woude syndrome		Autosomal dominant popliteal pterygium syndrome
	Frequent - Cleft lip and palate Occasional - Anodontia / oligodontia / hypodontia - Anomaly / ectopia / hypoplasia / atresia of salivary glands / salivary duct		Very frequent - Hirsutism / hypertrichosis / Increased body hair - Micrognathia / retrognathia / micrognathism / retrognathism - Restricted joint mobility / joint stiffness / ankylosis - Syndactyly of toes - Thin / retracted lips Frequent - Anomalies of the ribs - Bifid scrotum - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Cryptophthalmia / ankyloblepharon / synblepharon - Dysplastic / thick / grooved toenails - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Nails anomalies - Oral synechiae / abnormal frenulae - Popliteal web - Scoliosis - Syndactyly of fingers / interdigital palm - Talipes-varus / metatarsal varus - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Ambiguous genitalia - Choanal atresia - Intellectual deficit / mental / psychomotor retardation / learning disability - Oligodactyly / ectrodactyly of fingers