Van der Woude syndrome
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Frequency: 1/35.000 to 1/100,000 births. Represents 1-2% of patients with cleft lip or lip and palate. Autosomal dominant transmission of a mutation of the IRF6 gene on 1q32-q41 (type 1, same gene as the popliteal pterygium syndrome: see this term); in some cases, the WDR65 (1p34) or GRHL3 (1p36.11) genes (type 2, approximately 5% of cases) are involved.
Association (variable):
- a cleft lip, palate or lip and palate
- abnormalities of the lower lip: small dermal sinuses, fistulae, or median depression
- and sometimes dental anomalies: hypodontia in 20% of cases
- rarely: syngnathia (adhesions between upper and lower jaws), cardiac malformation, club foot, syndactyly, supernumerary nipples, Hirschsprung disease.
Very variable phenotype from one individual to another.
Anesthetic implications:
cleft lip and palate
References:
Updated: January 2019