Abstract
Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) are allelic autosomal dominant disorders caused by mutations in interferon regulatory factor 6 (IRF6). They comprise the single most common syndromic cause of cleft lip and/or palate (CL/P), accounting for 2% of all cases. VWS is characterized by CL/P and lower lip sinuses; PPS has the same features as VWS plus popliteal webbing, genital malformations, and syngnathia. The aim of this study is to summarize the clinical characteristics and treatment outcomes for patients with VWS/PPS and compare them to those for patients with nonsyndromic CL/P.
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