Handbook of Genetic Counseling/Van Der Woude syndrome

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Van Der Woude syndrome

Eiology [edit]

  • autosomal dominant
  • interstition deletion of IRF6 (interferon regulatory factor 6) on 1q32-41

Symptoms [edit]

  • lower lip pit(s) (80%)
  • watery mucoid discharge, excessive salivation
  • hypodontia
  • absent incisors (central/lateral), canines, and/or bicuspids
  • cleft lip with/without cleft palate (with/without missing second premolars)
  • cleft uvula

Treatment [edit]

  • surgical correction of the fistulas (accessory salivary glands)
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