Van Der Woude Syndrome: A Case Report

Van der Woude syndrome (VWS) is a rare autosomal dominant clefting syndrome with high penetrance and variable expressions. It is a common cause of syndromic orofacial clefting, accounting for 2% of cleft lip and cleft palate cases. Clinical manifestation includes bilateral lower lip pits, cleft lip, and cleft palate along with hypodontia. It is one of the few syndromes that present a mixture of cleft lip and cleft palate phenotypes in the same family. This case report presents two siblings both affected by VWS with different phenotypes, and facilitates the understanding of the etiology of malformation, epidemiology, clinical manifestations and associated features.