Van der Woude syndrome: Dentofacial features and implications for clinical practice

A. K. Lam, D. J. David, G. C. Townsend, P. J. Anderson

Research output: Contribution to journalArticlepeer-review

27 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)51-58
Number of pages8
JournalAustralian Dental Journal
Issue number1
Publication statusPublished - Mar 2010
Externally publishedYes


  • Cleft
  • Diagnosis
  • Genetic counselling
  • Hypodontia
  • Lip pits


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