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Van der Woude syndrome: dentofacial features and implications for clinical practice
Author(s) -
Lam AK,
David DJ,
Townsend GC,
Anderson PJ
Publication year - 2010
Publication title -
australian dental journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 71
eISSN - 1834-7819
pISSN - 0045-0421
DOI - 10.1111/j.1834-7819.2009.01178.x
Subject(s) - hypodontia , medicine , craniofacial , dentistry , velopharyngeal insufficiency , cohort , orthodontics , surgery , psychiatry
Background: 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. Methods: 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. Results: 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. Conclusions: 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.