Van der Woude syndrome

Van der Woude syndrome describes a disease involving the combination of the lower lip sine and a cleft lip, cleft palate or the combination of the both. Furthermore, hypodontia may occur. The features can appear singly or together and vary widely in their expression.

Van der Woude syndrome is based on a mutation in the interferon regulatory factor 6 (IRF6) gene. It is autosomal dominant with a high (80-97%) penetrance. The identified gene encodes a transcription factor which inhibits the expression of interferon-α. and its controls. It is believed that this protein is involved among other things in facial development.