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Van der Woude syndrome

Sunday 12 December 2004

Van der Woude syndrome is a dominant disorder that has cleft lip with or without cleft palate (CL/P) as a common feature.

Van der Woude syndrome, characterized by lip pits and cleft lip/ palate, presents with variable expressions.

Synopsis

- male to female ratio was 1:1.
- complete cleft types
- severe cleft

  • bilateral cleft lip and palate (52%)
  • unilateral cleft lip and palate (31%)
  • isolated cleft palate (17%)

- paramedian lip pits

- ankyloblepharon (18478600)
- unilateral renal aplasia (18478600)
- coronal hypospadias (18478600)

A positive family history was found in 53.1% of the patients. The size, shape, location, and depth of the pits varied among patients.

Etiology

- germline mutations in the gene for interferon regulatory factor 6 (IRF6)

  • allelic to popliteal pterygium syndrome (PPS)

References

- de Medeiros F, Hansen L, Mawlad E, Eiberg H, Asklund C, Tommerup N, Jakobsen LP. A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. Am J Med Genet A. 2008 Jun 15;146A(12):1605-8. PMID: 18478600

- Huang JJ, Hou JW, Tan YC, Chen KT, Lo LJ, Chen YR. Van der Woude syndrome: clinical presentation in 64 patients. Cleft Palate Craniofac J. 2007 Nov;44(6):649-52. PMID: 18177185