Van der Woude Syndrome, a clinical case presentation of a family group affecting 3 generations

Abstract

Van der Woude Syndrome is a genetic autosomal dominant condition that affects embryologic facial development. Around 3% of patients with syndromic cleft lip and palate present Van der Woude Syndrome. It is characterized by two labial pits or elevations in the lower lip considered patoneumonic to the syndrome, cleft lip with or without cleft palate and dental agenesis. Its genetic origin is traced to IRF6 gene (Interferon Regulating Factor 6) in charge of coding IRF6 protein which plays a predominant role in embryological facial development.