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Van der Woude syndrome: dentofacial features and implications for clinical practice.
Aust Dent J. 2010 Mar; 55(1):51-8.AD

Abstract

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.

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Authors+Show Affiliations

Lam AK
School of Dentistry, The University of Adelaide, South Australia, Australia.
David DJ
No affiliation info available
Townsend GC
No affiliation info available
Anderson PJ
No affiliation info available

MeSH

AnodontiaCleft LipCleft PalateCohort StudiesFemaleGenes, DominantHumansLipLip DiseasesMaleOral FistulaPalate, SoftPedigreePenetrancePhenotypePrevalenceRetrospective StudiesSouth AustraliaSyndrome

Pub Type(s)

Journal Article

Language

eng

PubMed ID

20415912

Citation

Lam, A K., et al. "Van Der Woude Syndrome: Dentofacial Features and Implications for Clinical Practice." Australian Dental Journal, vol. 55, no. 1, 2010, pp. 51-8.
Lam AK, David DJ, Townsend GC, et al. Van der Woude syndrome: dentofacial features and implications for clinical practice. Aust Dent J. 2010;55(1):51-8.
Lam, A. K., David, D. J., Townsend, G. C., & Anderson, P. J. (2010). Van der Woude syndrome: dentofacial features and implications for clinical practice. Australian Dental Journal, 55(1), 51-8. https://doi.org/10.1111/j.1834-7819.2009.01178.x
Lam AK, et al. Van Der Woude Syndrome: Dentofacial Features and Implications for Clinical Practice. Aust Dent J. 2010;55(1):51-8. PubMed PMID: 20415912.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Van der Woude syndrome: dentofacial features and implications for clinical practice. AU - Lam,A K, AU - David,D J, AU - Townsend,G C, AU - Anderson,P J, PY - 2010/4/27/entrez PY - 2010/4/27/pubmed PY - 2010/7/16/medline SP - 51 EP - 8 JF - Australian dental journal JO - Aust Dent J VL - 55 IS - 1 N2 - 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. SN - 1834-7819 UR - https://www.unboundmedicine.com/medline/citation/20415912/Van_der_Woude_syndrome:_dentofacial_features_and_implications_for_clinical_practice_ L2 - https://doi.org/10.1111/j.1834-7819.2009.01178.x DB - PRIME DP - Unbound Medicine ER -