Van der Woude Syndrome

What is Van der Woude syndrome?

Van der Woude (van-der-WOOD-ee) syndrome is a rare inherited disorder that affects how a child’s mouth forms in the womb. Children with this condition have sunken or raised pits in their lower lip called lip pits. They may also have an opening in their lip called a cleft lip, or one in the roof of the mouth called a cleft palate — or both. Some of a child’s teeth might not develop.

Healthcare providers sometimes call the condition “lip pit syndrome.” French physician J. Demarquay first described the condition in 1845. It gets its name from Dr. Anne Van der Woude who conducted comprehensive studies about the condition in the early 1950s.

What are a cleft lip and cleft palate?

A cleft lip and palate refers to an opening, or cleft, in the lip and roof of the mouth (palate). It’s a type of birth defect that occurs while a baby develops in the womb. A child may have either a cleft lip or a cleft palate or they may have both conditions.

• Cleft lip: The two sides of your child’s upper lip don’t join together. This opening or gap in the upper lip exposes their gums and may affect their gumline.
• Cleft palate: There’s a split or opening in the front bony section of the roof of your child’s mouth or the soft back section. Sometimes, the opening affects both sections.

How common is Van der Woude syndrome?

Van der Woude syndrome affects approximately 1 in 35,000 to 1 in 100,000 people worldwide.

What causes Van der Woude syndrome?

Children with Van der Woude syndrome inherit a changed or mutated interferon regulatory factor 6 gene (IRF6) from one parent. We may find additional genes that are connected with this syndrome in the future as further research continues.

IRF6 makes a protein that helps form a child’s head, face, skin and genitals. A mutated IRF6 gene leads to low protein levels. As a result, certain tissues in the face don’t develop as they should.

Who is at risk for Van der Woude syndrome?

Van der Woude syndrome is an autosomal dominant disorder. A child inherits a copy of the disease-causing mutated gene from one parent. The parent typically has the condition too. A parent who has a gene mutation for an autosomal dominant disorder has a 50% chance of passing it to each of their children. It’s possible (although rare) for a child to inherit the gene mutation and not develop Van der Woude syndrome.

What are the symptoms of Van der Woude syndrome?

Symptoms of Van der Woude syndrome include:

• Cleft lip, cleft palate or both conditions.
• Lip pits (depressions) or mounds (raised bumps) on one or both sides of the lower lip.
• Moist- or wet-looking lower lip due to salivary or mucus glands that connect to the lip pits.
• Missing teeth (hypodontia) or missing teeth enamel (dental hypoplasia).

What are the complications of Van der Woude syndrome?

Some children with Van der Woude syndrome experience:

• Developmental delays.
• Mild cognitive impairment.
• Speech and language delays.

Can prenatal tests detect Van der Woude syndrome?

A prenatal ultrasound can detect a cleft lip and sometimes a cleft palate while your baby is still developing in your womb. Other prenatal tests can detect the IRF6 mutation. These tests include:

• Chorionic villus sampling (CVS).
• Genetic amniocentesis.

How is Van der Woude syndrome diagnosed?

If your baby has a cleft lip, cleft palate or lip pits, your healthcare provider will order a gene test. This blood test looks for the mutation that causes Van der Woude syndrome. You and your partner may also get genetic testing.

How do providers treat Van der Woude syndrome?

Children with a cleft lip or palate need surgery to close the gaps. Cleft lip surgery typically takes place when a baby is between 2 and 6 months old. Cleft palate repair takes place later when a child is between 9 and 18 months old.

Your child will also need surgery to remove the lip pits and stop saliva and mucus from flowing to their lip. This surgery may take place at the same time as the cleft lip or cleft palate repair.

What are other treatments for Van der Woude syndrome?

Infants with a cleft lip or palate may have feeding difficulties until surgery takes place. You may need to see a dietitian or speech-language therapist. After surgery, a child may need speech therapy to address speech problems.

Regular dental check-ups and proper teeth and gum care are also important if your child is missing teeth or tooth enamel.

Can you prevent Van der Woude syndrome?

If you or your partner have the gene mutation that causes Van der Woude syndrome, you may want to consult with a genetic counselor. This specialist can discuss ways to lower the risk of passing the mutated gene to future generations.

What is the outlook for someone with Van der Woude syndrome?

Surgery to treat the cleft problem and remove the lip pits is often successful. You can take steps to help your child heal after cleft lip repair. Most children do well after surgical treatment and lead full lives. Speech therapy can help if your child has speech difficulties.

When should I call the doctor?

Call your child’s healthcare provider if your child has difficulty:

• Breathing.
• Feeding.
• Speaking.
• Swallowing.

What should I ask my provider?

You may want to ask your healthcare provider:

• What caused my child to have Van der Woude syndrome?
• Does my child need surgery, and if so, when?
• What other therapies can help my child?
• What can I do at home to help my child with feeding and speech problems?
• Should my partner and I get genetic testing?
• Should I look for signs of complications?

What’s the difference between Van der Woude syndrome and popliteal pterygium syndrome?

Popliteal pterygium syndrome (PPS) is also an inherited autosomal dominant disorder that causes symptoms similar to Van der Woude syndrome. The same mutated IRF6 gene causes PPS. This condition is rarer, affecting 1 in 300,000 people.

In addition to Van der Woude symptoms like cleft lip, cleft palate and lip pits, a child with PPS also has:

• Excess tissue that connects the upper and lower eyelids or jaw.
• Skin folds that cover the big toes.
• Undeveloped, small labia majora (part of the female reproductive system).
• Undescended testicles (part of the male reproductive system).
• Webs of skin on the back of the knees or between the fingers (a congenital hand difference called syndactyly).

A note from Cleveland Clinic

It can be upsetting to have a child with unusual facial features like lip pits, cleft lip or cleft palate. Fortunately, surgery can correct these issues, allowing your child to thrive. Your child may need to see specialists for feeding or speech difficulties. Regular dental check-ups are also critical if your child has dental issues. If you have a child with Van der Woude syndrome, a genetic counselor can discuss how the gene change that causes the disease may impact future generations.