A girl with palatoschisis, hypodontia, and lower lip pits

Van der Woude's syndrome (VWS) is an autosomal dominant syndrome (OMIM 119300). It is a craniofacial disorder that manifests in its complete form with lower lip pits, hypodontia and cleft lip and/or palate. It is one of the most common genetic causes of orofacial clefting, having very high penetrance with variable expressivity. The locus for VWS has been mapped on 1q32-41. Mutations in the interferon regulatory factor 6 gene have also been identified in patients with VWS associated with popliteal pterygium's syndrome.