The Van der Woude syndrome (dominantly inherited lip pits and clefts).

Abstract

A patient with symmetrical lower lip pits with or without cleft lip or palate is most likely to be the carrier of a dominant gene that causes the syndrome of lip pits and clefts or Van der Woude syndrome. Familial occurrence of lower lip pits and clefts was first described by Demarquay in 1845.1 Watanabe et a12 reviewed some 100 cases in 1951, and Van der Woude delineated the syndrome in 1954.3 Further important contributions came from Cervenka et al,4 who presented 66 personally observed cases and reviewed some 450 others, and Rintala and Ranta,' who studied the incidence among cleft cases from the Finnish malformation registry. Finally, Burdick et a16 performed a genetic analysis of 864 cases.