Van der Woude syndrome

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