Lam, A.David, D.Townsend, G.Anderson, P.2010-10-072010-10-072010Australian Dental Journal, 2010; 55(1):51-580045-04211834-7819http://hdl.handle.net/2440/61082<h4>Background</h4>Van der Woude syndrome (VWS) is the most common clefting syndrome in humans. It is characterized by the association of congenital lower lip fistulae with cleft lip and/or cleft palate. VWS individuals have a high prevalence of hypodontia. Although caused by a single gene mutation, VWS has variable phenotypic expression. This study aimed to describe the range of clinical presentations in 22 individuals with VWS to facilitate its diagnosis.<h4>Methods</h4>A retrospective study of 22 patients with a diagnosis of VWS was undertaken at the Australian Craniofacial Unit (ACFU) in Adelaide. Three extended families with affected members were included in the study cohort.<h4>Results</h4>The overall prevalence of lip pits in this study cohort was 86%. Cleft phenotypes included bilateral cleft lip and palate (32%); unilateral cleft lip and palate (32%); submucous cleft palate (23%); and isolated cleft hard and soft palate (9%). Missing permanent teeth were reported in 86% of affected individuals.<h4>Conclusions</h4>Submucous cleft palate in VWS may go undiagnosed if the lower lip pits are not detected. Associated hypodontia and resultant malocclusions will also require management by a dental team.en© 2010 Australian Dental AssociationCleftdiagnosisgenetic counsellinghypodontialip pitsJournal article002009552510.1111/j.1834-7819.2009.01178.x0002752168000082-s2.0-7794940814035682Anderson, P. [0000-0002-3730-4652]