A Case of Van der Woude Syndrome / 대한이비인후과학회지

ABSTRACT

Van der Woude syndrome is a rare developmental malformation characterized by pits in the lower lip, usually bilateral and located on either side of the midline, cleft lip with or without cleft palate, cleft uvula. This malformation have autosomal dominant inheritance with 80% to 100% penetrance and variable expressivity. Lip pits are also found in association with ankyloblepharon, popliteal pterygium, syndactyly, missing teeth etc. The treatment of lower lip fistulas is simple surgical excision. We experienced a patient with Van der Woude syndrome, who had bilateral lower lip pits with a submucous cleft palate. So we present Van der Woude syndrome and discuss the treatment with a review of literature.