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 and / or mild learning issues.

How common is Van der Woude Syndrome?

Van der Woude syndrome occurs in one in 35,000 to one in 100,000 people.

What are Common Features of Van der Woude Syndrome?

• Lip pits
• Cleft lip / palate
• Missing teeth
• Language delays and mild learning challenges

How do Genetics Play a Role in Van der Woude Syndrome?

Our genes are an instruction manual to our body. They tell our body how to function and develop. We inherit (receive) all our genes from our parents so most of our genes come in pairs.

Van der Woude syndrome is a genetic condition caused by a change (mutation) in one copy of the IRF6 gene. This gene is 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 testing DNA which is present in all of our cells. A saliva or blood sample is often used to collect DNA. About 72% of people who have a clinical diagnosis of Van der Woude syndrome will have genetic change in one copy of the IRF6 gene.

Is Van der Woude Syndrome Inherited?

Van der Woude syndrome is inherited in an autosomal dominant pattern. 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.

Autosomal Dominant Inheritance

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. Your child will be followed by the Cleft and Craniofacial Center to coordinate their surgical and treatment timeline. Providers will follow your child’s development closely to monitor for possible language delays, speech problems, dental concerns and / or learning issues. The team will recommend therapies if needed to help your child.

What are my Care Options for Van der Woude Syndrome?

Families should talk about their care options and needs with their care team. Our goal is to give the best care and experience for our patients and their families.