Rare Diseases Symptoms Automatic Extraction

Van der Woude syndrome: report of two cases with supplementary findings.

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Van der Woude syndrome (VWS) is a rare developmental disorder with an autosomal dominant inheritance and variable expressivity, occurring in about 1 of every 1,00,000-2,00,000 people. This syndrome is remarkably variable. It is characterized by orofacial manifestations like lower lip pits, cleft lip and/or cleft palate, hypodontia, cleft or bifid uvula, syngnathia, narrow high arched palate, ankyloglossia and hyper nasal voice. We report two interesting cases of VWS with characteristic orofacial features and an unusual additional finding of bilateral commissural pits. The purpose of this article is to facilitate understanding of etio-pathogenesis, clinical manifestations, role of genetic counseling and with special emphasis on commissural pits as an additional feature in VWS.