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Van der Woude Syndrome (VWS)

Department of Pediatrics
Craniofacial Anomalies Research Center
Peer Review Status: Internally Peer Reviewed
Creation Date: October 2001
Clefts of the lip or palate have many causes. One 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:

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

Lip mounds
Lip mounds in patient with Van der Woude Syndrome

Lip pits
Lip pits in patient with Van der Woude Syndrome

What causes VWS?
Genes, the basic units 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.

Cell, Nucleus, Chromosome, DNA Strand, and Gene Code
Cell - Nucleus - Chromosome - DNA Strand - Gene Code

Can future children also have VWS?
VWS is inherited in an autosomal dominant pattern. 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 VWS 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.

How will making this 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.

Ongoing research
Progress is being made in the search for the VWS gene. Researchers determined that the gene is located on chromosome number one. They are now focusing their efforts on finding the exact location of the gene on chromosome one. Once the gene is found, researchers can study the function of the gene. Knowledge of the function may lead to ways to prevent or improve the treatment of VWS. Finding the VWS gene may also lead to the development of a clinical genetic test.

Dominant and normal genes

How can I learn more about VWS?

Other Resources

See related Patient Textbooks about Pediatrics.

See related Patient Topics Birth Defects, Cleft Lip and Palate, Genetics, Genetics/Birth Defects, Mouth and Teeth or Pediatrics.

See related Provider Textbooks about Pediatrics.

See related Provider Topics Birth Defects, Cleft Lip and Palate, Genetics, Genetics/Birth Defects, Mouth and Teeth or Pediatrics.

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