Van der Woude Syndrome
The characteristic features of van der Woude syndrome include the following:
- Irregular lower lip, usually with two small depressions called pits or mounds
- A cleft lip, cleft palate, or both
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.