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Van der Woude syndrome
3 OMIM references -
2 associated genes
7 connected diseases
7 signs/symptoms
Disease Type of connection
Autosomal dominant popliteal pterygium syndrome
Oligodontia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Primary biliary cirrhosis
Synonym(s):
- Cleft lip and/or palate with mucous cysts of lower lip
- Lip-pit syndrome
- VWS
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
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
External references:
3 OMIM references -
1 MeSH reference: C536528
Gene symbol UniProt reference OMIM reference
GRHL3 Q8TE85608317
IRF6 O14896607199
Very frequent
- Autosomal dominant inheritance
- Lip pits / fistulae

Frequent
- Cleft lip and palate
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Lateral cleft lip / gingival cleft / paramedian nasal cleft

Occasional
- Anodontia / oligodontia / hypodontia
- Anomaly / ectopia / hypoplasia / atresia of salivary glands / salivary duct