Van der Woude Syndrome

The characteristic features of van der Woude syndrome include the following:

The lip pits and clefts can occur alone or in any combination. Hypodontia, or missing teeth, is also common.

A related syndrome, called Popliteal Pterygium syndrome, is caused by mutations within the same gene as van der Woude syndrome. It's characterized by webbing of the skin, syndactyly (joining or webbing of any of the fingers or toes), genital anomalies and a characteristic fold of the skin overlying the nail, in addition to the typical features of van der Woude syndrome.

Van der Woude syndrome is a genetic condition that's inherited in an autosomal dominant pattern. This means that if one parent has it, there is a 50 percent chance of transmitting the condition to each child. Van de Woude syndrome can also be caused by de novo, or new, mutations.

Van der Woude is the most common syndrome involving cleft lip and palate, affecting about two percent of patients with a cleft. The prevalence of van der Woude syndrome varies from one in 40,000 to one in 100,000 births.

Van der Woude syndrome is usually diagnosed based on its features. A genetic test is available that identifies a mutation in the IRF6 gene, which is found in 70 percent of people with van der Woude syndrome. A mutation in this gene is found in 97 percent of people who have features of Popliteal Pterygium syndrome.