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Online mutation report
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene
  1. M Ghassibé1,
  2. N Revencu2,
  3. B Bayet3,
  4. Y Gillerot2,
  5. R Vanwijck3,
  6. C Verellen-Dumoulin2,
  7. M Vikkula1
  1. 1Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Universite catholique de Louvain, Avenue Hippocrate 74+4, Brussels, Belgium
  2. 2Centre for Human Genetics, Cliniques universitaires St Luc and Université catholique de Louvain, Brussels, Belgium
  3. 3Centre Labiopalatin, Division of Plastic Surgery, Cliniques universitaires St Luc, Brussels, Belgium
  1. Correspondence to:
 Professor M Vikkula
 Laboratory of Human Molecular Genetics, Institute of Cellular Pathology and Universite catholique de Louvain, Avenue Hippocrate 74+4, Brussels B-1200, Belgium; vikkulabchm.ucl.ac.be

https://doi.org/10.1136/jmg.2003.009274

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    Van der Woude syndrome (VWS, OMIM #119300) is a dominantly inherited developmental disorder characterised by pits and/or sinuses of the lower lip, cleft lip with or without cleft palate (CL/P), isolated cleft palate (CP), bifid uvula (BU), and hypodontia (H).1–3 Cleft lip deformity is established during the first 6 weeks of life due to failure of fusion of maxillary and medial nasal processes or to incomplete mesodermal ingrowth into the processes. Palatal clefts result from failure of fusion of the palatal shelves that normally change from a vertical to horizontal position and fuse during the sixth to ninth weeks of gestation.

    The severity of VWS varies widely, even within families. About 25% of individuals with the syndrome have minimal findings, such as absent teeth or trivial indentations in the lower lips. Clefting of the lip or palate is present in ~50% of cases. Lip pits and/or sinuses are the cardinal features of this syndrome, present in 70–80% of VWS patients.2 They are often associated with accessory salivary glands that empty into the pits, sometimes leading to embarrassing visible discharge.4,5 Another syndrome closely mimicking VWS is popliteal pterygium syndrome (PPS, OMIM #119500). It combines VWS signs and symptoms with popliteal and oral webs, unusual nails, syndactyly, ankyloblepharon, and genital anomalies6 (fig 1).

    Figure 1

    The major features of VWS and PPS. (A) Unilateral cleft lip in VWS5-IV:3; (B) lip pits in VWS5-IV:1; (C) syndactyly of fingers in VWS5-IV:1; (D) buccal synechiae in VWS5-IV:3. The position of the lip pits is shown by the arrow and the arrowhead indicates the buccal synechiae.

    VWS is the most common cleft syndrome, affecting 1 in 35 000–100 000 people (~1/70 000).7 About 1–2% of patients with cleft lip or palate have VWS. The VWS pedigrees suggest an autosomal dominant inheritance …

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