Handbook of Genetic Counseling/Van Der Woude syndrome

Van Der Woude syndrome

Eiology

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

Symptoms

 * 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

 * surgical correction of the fistulas (accessory salivary glands)