What is Van der Woude syndrome

Van der Woude syndrome is a rare genetic disorder that primarily affects the development of the face and mouth. It is characterized by two main features: cleft lip and/or cleft palate, and lower lip pits or small depressions. These lip pits are often found on the lower lip and may vary in size and depth.

Cleft lip and/or cleft palate occur when the tissues that form the lip and palate do not fuse properly during fetal development. This can lead to a split or opening in the lip and/or roof of the mouth. The severity of the cleft can vary from a small notch to a complete separation.

Lower lip pits are small indentations or depressions on the lower lip, typically near the midline. They may appear as tiny dimples or larger openings and are often lined with mucous membranes.

Van der Woude syndrome is caused by mutations in the IRF6 gene, which plays a crucial role in facial and oral development. It is inherited in an autosomal dominant pattern, meaning that a person with the syndrome has a 50% chance of passing it on to their children.

Individuals with Van der Woude syndrome may require multidisciplinary care involving specialists such as plastic surgeons, speech therapists, and orthodontists to address the associated challenges. Treatment options may include surgical repair of the cleft lip and/or palate, speech therapy, and dental interventions.