Van der Woude syndrome

[MIM 119 300] 606 713]

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