What is Van der Woude Syndrome?
Van der Woude syndrome is a genetic condition that impacts the development of the face. The most common feature is lip pits, seen in 80% of people. A lip pit is a depression or elevation, which can occur on one or both sides of the lower lip. A cleft lip, cleft palate, or both may be present. A cleft is an opening that can occur on the upper lip or inside the roof of the mouth (palate). Some people may have missing teeth. Rarely, birth defects such as spina bifida (open spine defect) have been seen. Van der Woude syndrome itself does not cause learning problems. Although, those who have cleft lip, palate or both are more likely to have speech and language delay.
How Common is Van der Woude Syndrome?
Van der Woude syndrome occurs in 1 in 35,000 to 1 in 100,000 people. About 2% of people with a cleft lip and / or palate have Van der Woude syndrome.
What Are Common Features of Van der Woude Syndrome?
- Lip pits
- Cleft lip and / or palate
- Missing teeth
How Do Genetics Play a Role in Van der Woude Syndrome?
Our genes are like an instruction manual for our body. They tell our body how to function and develop. Van der Woude syndrome is a genetic condition caused by a non-working copy of the IRF6 or GRHL3 gene. These genes are important for early development of the tissues in the face and head.
How is Van der Woude Syndrome Diagnosed?
A diagnosis of Van der Woude syndrome is made by clinical evaluation, usually with the presence of a cleft lip and / or cleft palate with lower lip pits. The diagnosis may be confirmed by genetic testing. Genetic testing can be done with a saliva or blood sample.
Is Van der Woude Syndrome Inherited?
Van der Woude syndrome is inherited from one parent who has a gene mutation. Those with the condition have one working copy of the gene and one non-working copy of the gene. Sometimes, Van der Woude syndrome is inherited from a parent who also has the condition. Other times, it occurs as a new change in a child for the first time. No one does anything to cause these genetic changes. When someone has Van der Woude syndrome, they have a 50% chance with each pregnancy to have a child with the condition.
Inheritance Patterns
How is Van der Woude Syndrome Treated?
Those with Van der Woude syndrome who have cleft lip and / or cleft palate will need surgery to repair the cleft. Healthcare providers will follow your child’s development closely to monitor for possible language delays, speech problems, dental concerns and / or learning issues and will recommend therapies if needed to help your child.
