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)