Handbook of Genetic Counseling/Van Der Woude syndrome

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)