Van der Woude syndrome (VWS) is a craniofacial disorder characterised by the association of pits or sinuses on the lower lip with cleft lip and/or cleft palate. It represents the most frequent form of syndromic cleft lip and palate with a prevalence in the general population of around 1 in 60 000. Hypodontia may also be associated with VWS. The clinical manifestations are highly variable, even between members of the same family, with all combinations possible (some patients present with lower lip pits alone, absent teeth, or isolated cleft lip and palate of varying severity). Lip pits are the most common manifestation, occurring in 88% of the cases. The syndrome is transmitted in an autosomal dominant manner, with high penetrance (between 80 and 97%). Mutations in the interferon regulatory factor 6 gene (IRF6, locus 1q32-q41) are responsible for VWS and more than 70 mutations have been reported. Differential diagnosis should include other syndromes associated with lower lip pits such as facio-genito-popliteal syndrome (popliteal pterygium syndrome) and orodigitofacial dysostosis. Treatment of VWS mainly involves surgical repair of the cleft lip/palate. The lip pits are generally asymptomatic but surgical excision may be performed for cosmetic reasons or to reduce mucous discharge or salivary flow.
Last update: April 2006