Van der Woude Syndrome
Description
Van der Woude syndrome (VWS) is a rare genetic disorder that primarily affects the development of the mouth and face. Individuals with VWS often have lip pits, which are small indentations in the lower lip, and may also experience cleft lip, cleft palate, or other oral abnormalities. This blog post provides a comprehensive overview of VWS, covering its causes, symptoms, diagnosis, management, and resources for families affected by this condition.
Genes Involved
Van der Woude syndrome is caused by mutations in the IRF6 gene. This gene plays a crucial role in the development of the face and mouth during pregnancy.
Recognizing the Signs and Symptoms
The most common signs and symptoms of Van der Woude syndrome include:
- Lip pits: These are small, symmetrical indentations on the lower lip, usually located near the center.
- Cleft lip: A split or opening in the upper lip, which may range in severity.
- Cleft palate: A split or opening in the roof of the mouth.
- Hypodontia: Missing teeth, which may affect the number or type of teeth.
- Other oral abnormalities: These may include malformed teeth, gum problems, or difficulties with swallowing.
Causes
VWS is a genetic disorder, meaning it is caused by changes in the genes. The most common cause of VWS is a mutation in the IRF6 gene. These mutations are usually inherited from a parent, but they can also occur spontaneously.
Inheritance/recurrence risk
VWS is typically inherited in an autosomal dominant pattern. This means that a single copy of the mutated gene from either parent is sufficient to cause the condition. The risk of passing the gene and the condition to a child is 50% for each pregnancy. However, it‘s important to note that individuals with VWS may not always have obvious symptoms, which can complicate the estimation of the risk of inheritance.
