Van der Woude Syndrome With a Novel Mutation in the IRF6 Gene

Van der Woude syndrome (VWS) is a rare autosomal dominant disease, first reported in the literature in 1845 by Demarquay and subsequently thoroughly described in 1954 by Van der Woude. Van der Woude Syndrome is the most common form of syndromic orofacial clefting and individuals with this syndrome account for 2% of all cleft cases. Van der Woude syndrome clinically presents with congenital lip pits. These lip pits occur on paramedian portion of the vermillion border of the lip. In VWS, congenital lip pits occur in concurrence with cleft lip and/or cleft palate and represent the most common clinical problem occurring in 80% of the patients. Lip pits result due to notching of the lips at an early stage of development with fixation of tissues at the base of the notch or they may result from a failure of complete union of embryonic lateral sulci of lip. Single lip sinuses without any cleft syndrome are rare; lower lip fistulas in VWS are generally asymptomatic, and surgical management is usually accomplished because of aesthetic concerns. However, in some cases, patients may complain of watery drainage or hypotonia of the lower lip. Herein, the authors report a novel frameshift mutation in IRF6 gene which may contribute to better understanding the genetic aspect of VWS.