Van der Woude syndrome
Van der Woude syndrome (pronounced: van der WOW-dee syndrome) is a rare genetic disorder characterized by certain facial features. It is also known as VDWS or Lip-pit syndrome.
Etymology
The syndrome is named after the Dutch plastic surgeon who first described it in 1954, Dr. Anne van der Woude.
Definition
Van der Woude syndrome is a condition that affects the development of the face. Most people with this condition have lower lip pits, which are depressions in the skin of the lower lip. These pits may appear as openings or channels that lead from the lip to the inside of the mouth. Some affected individuals also have cleft lip and/or cleft palate.
Symptoms
The most common symptoms of Van der Woude syndrome include:
- Cleft lip and/or cleft palate
- Lower lip pits
- Missing teeth
- Hypodontia (fewer teeth than normal)
- Anodontia (complete absence of teeth)
Causes
Van der Woude syndrome is caused by mutations in the IRF6 gene. This gene provides instructions for making a protein that plays a critical role in the development of certain tissues including the skin and the face.
Diagnosis
Diagnosis of Van der Woude syndrome is based on the clinical features, including the presence of lower lip pits and/or cleft lip and/or cleft palate. Genetic testing can confirm the diagnosis.
Treatment
Treatment for Van der Woude syndrome typically involves surgery to repair the cleft lip and/or cleft palate. Dental treatment may also be needed for missing or malformed teeth.
See also
External links
- Medical encyclopedia article on Van der Woude syndrome
- Wikipedia's article - Van der Woude syndrome
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