411 REFERENCE · Wikibooks
Handbook of Genetic Counseling/Van Der Woude syndrome
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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)