Van der Woude syndrome: clinical presentation in 64 patients

Cleft Palate Craniofac J. 2007 Nov;44(6):649-52. doi: 10.1597/06-094.1.

Abstract

Objective: Van der Woude syndrome, characterized by lip pits and cleft lip/ palate, presents with variable expressions. This retrospective study was designed to obtain a better understanding of its clinical pattern in Taiwanese patients.

Materials and methods: Of 13,147 cleft patients treated at the Chang Gung Craniofacial Center from 1976 to 2004, there were 64 with Van der Woude syndrome. Clinical expressions and family histories were collected and analyzed.

Results: The male to female ratio was 1:1. The majority had complete cleft types. Severe cleft was found among the patients, with 52% having bilateral cleft lip and palate, 31% having unilateral cleft lip and palate, and 17% having isolated cleft palate. A positive family history was found in 53.1% of the patients. The size, shape, location, and depth of the pits varied among patients.

Conclusion: Clinical presentations did not always parallel those reported in the literatures. These differences warrant further investigation.

MeSH terms

  • Abnormalities, Multiple
  • Cleft Lip / genetics
  • Cleft Lip / pathology*
  • Cleft Palate / genetics
  • Cleft Palate / pathology*
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Pedigree
  • Penetrance
  • Retrospective Studies
  • Sex Ratio
  • Syndrome
  • Taiwan