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Learn about Van der Woude Syndrome

What is Van der Woude Syndrome (VWS)?

Clefts of the lip or palate have many causes. One cause is Van der Woude Syndrome (VWS), an inherited disorder. Inherited disorders are passed from parent to child through genes. About three percent of people with a cleft have VWS. Features of VWS include:

  • mounds or depressions (pits) on the lower lip
  • cleft lip with or without cleft palate
  • cleft palate alone
  • missing teeth

People who show signs of VWS can have one or more of these features. It is the lip pits or mounds that help set VWS apart from other types of cleft syndromes.

lip mounds

lip pits

Lip mounds (top) and lip pits (bottom) in patients with VWS

What causes VWS?

Genes, the basic unit of heredity, contain blueprints for human growth and development. Genes are found on chromosomes. Humans have 46 chromosomes, 23 coming from the mother and 23 coming from the father. A change or alteration in a single gene on chromosome number one causes VWS. Of the people who inherit this altered gene, 95 percent have some features of VWS. Some people who inherit an altered VWS gene do not show any features.

graphic going from cellular level to genetic level

Can future children have VWS?

VWS is inherited in an autosomal dominant pattern (see graphic below). In VWS, the altered gene is the dominant gene. This means the person with an altered VWS gene usually has some feature of the syndrome. People with VWS have a 50 percent chance of passing the dominant, altered gene on to each of their children, regardless of the sex of the child. They also have a 50 percent chance of passing the normal gene to their children. Children who inherit the unaltered gene will not have VWS and thus cannot pass it on to future children. The severity of VWS features cannot be predicted even within a family. It is not known why some people have lip pits only, some people have lip pits and a cleft, some people have only a cleft, while others do not show any features.

autosomal dominant inheritance

How will making the diagnosis help my child?

Seeking treatment early in your child's life allows for timely surgery, speech therapy and dental care. Questions about feeding concerns and your role in your child's treatment can be answered early. A Child with a cleft palate has a higher risk for ear infections and speech problems which if caught early can be treated. An early diagnosis of VWS allows couples planning to have children to assess their risk of having a child with VWS.

The VWS Gene

The gene for Van der Woude syndrome (VWS) was recently identified. It is called IRF6, ("Interferon Regulatory Factor 6"). Mutations in the IRF6 gene cause VWS and a related condition called the popliteal pterygium syndrome (PPS). Clinical testing for the diagnosis of VWS will soon become available. Researchers from the University of Iowa are working with a group called GeneDx to develop this test. Research is ongoing to learn about the function of this gene in development of the face. You can read more about the gene discovery at the University of Iowa web site: www.genetics.uiowa.edu/

GeneDx can be reached at: www.genedx.com

Phone: 301-519-2100
(Calls will be returned within 24 hours)
Fax: 301-519-2892
E-mail: genedx@genedx.com

How can I learn more about VWS?
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Last modified: 09/22/03