What is Van der Woude syndrome?

Van der Woude syndrome is a rare genetic disorder characterized by various structural deformities of the mouth. The disorder affects between 1 and 3 children in every 100,000. Van der Woude syndrome is the most common genetic syndrome associated with cleft lip and palate, and is diagnosed in about 1 to 2 percent of children born with cleft lip and/or cleft palate. No differences in the incidence among races or gender have been described.

Children with Van der Woude syndrome typically have a combination of a cleft lip and/or cleft palate in addition to a pit or slit on both sides of the lower lip. These slits, or depressions, are usually the same on both sides of the mouth, although their appearance can range from very wide to barely noticeable. Saliva will often come out of these slits because they connect to the drainage of salivary glands beneath the skin. 

It’s important to note that about one-third of patients with these pits in their lower lip do not have an associated cleft lip or palate. Also, about 10 percent of children who are genetically diagnosed with Van der Woude syndrome do not have lip pits.

Cause

Van der Woude syndrome is caused by a variety of mutations in the IRF6 gene on chromosome 1. This gene is involved in the formation of the roof of the mouth and other structures during development.

The IRF6 gene is inherited in an autosomal dominant fashion, which means the gene only has to be passed down from one parent for a child to have the disease. If your child has this condition, there is a 50 to 70 percent chance another family member also has it. There is also a high likelihood (above 80 percent) that your child will pass the disease on to his or her children.

Signs and symptoms

Common symptoms of Van der Woude syndrome include cleft lip and/or cleft palate in addition to a pit or slit on both sides of the lower lip. The appearance of these lip slits can range from very wide to barely noticeable. Because these lip slits connect to salivary glands beneath the skin, children with Van der Woude syndrome typically appear to be drooling as saliva will drain through these openings.

Aside from cleft lip, cleft palate and lip pits, children with Van der Woude syndrome may have additional structural problems of the mouth. Associated oral findings can include missing teeth (a condition called hypodontia), caused when the teeth do not form properly. Anywhere from 10-81 percent of people with this syndrome will be missing teeth. The upper and lower second premolars are the most commonly missing teeth. There are no other anomalies associated with Van der Woude syndrome outside the mouth and face (also called the orofacial region).

Testing and diagnosis

Van der Woude syndrome is typically suspected based on the characteristic finding of lip pits. The diagnosis can be confirm with genetic testing.

Treatment

Children with Van der Woude syndrome who also have cleft lip or cleft palate are treated the same way as those children who have cleft lip and palate without lip pits or slits.

The lip pits themselves can be removed with a minor surgical procedure. This can cure the drainage of saliva and improve the appearance of the lip, but often some irregularity of the lip remains after surgery.

Long-term outlook

The long-term outlook for children with Van der Woude syndrome is generally very positive. At CHOP, our team of specialists is experienced in caring for children with Van der Woude syndrome and has an excellent track record of long-term success.

Why choose us

The multidisciplinary team at CHOP is world-renowned for advancing the understanding and management of Van der Woude syndrome. This team of experts has access to the most up-to-date diagnostic and treatment modalities and strives to improve the lives of every patient.