Van der Woude Syndrome

Mouth and facial deformities present

Van der Woude syndrome consists of mouth and facial deformities which may vary from person to person and in degree of severity, even among members of the same family. Van der Woude syndrome affects about 1 in 100,000-200,000 persons worldwide, both males and females, and people of all ethnic backgrounds. Many people inherit the syndrome, but others have no affected relative.

Symptoms and Diagnosis
The deformities present in van der Woude syndrome, which form the basis for diagnosis, typically consist of:

• A split (cleft) in the roof of the mouth (palate) and/or in the upper lip. This may occur on one or both sides of the mouth.
• Small pits in the center of the red part of the lower lip. They may appear as bumps on an infant’s lip, changing to depressions as the child grows older.

About 70% of individuals affected by van der Woude syndrome have both deformities. Some individuals have only cleft palate or only lip pits. Other less common signs of van der Woude syndrome can be:

• Missing teeth on lower jaw (incisors or premolars)
• Congenital adhesion of the jaws
• Narrow, high, arched palate
• Tongue deformity

Anomalies of other parts of the body have been reported with van der Woude syndrome, but it is not clear if these malformations are truly part of the syndrome.

Treatment
Plastic surgery can repair cleft lip and palate. Lip pits are often removed surgically. Dentists and plastic surgeons can repair other problems with the teeth or jaws.

Genetic counseling for individuals with van der Woude syndrome is important. A parent with only mild symptoms needs to know his/her child would be at risk for serious mouth and face malformations, since the syndrome’s effects may vary even from parent to child. Since van der Woude syndrome is an autosomal dominant disorder, each of this parent’s children would have a 50% chance of inheriting the syndrome. The gene for van der Woude syndrome has been identified on chromosome 1, but genetic testing for it is available at only a few laboratories.

Information for this article was taken from:
Conners, G. P. (2003). Van der Woude syndrome. eMedicine, accessed at http://www.emedicine.com/ped/topic2753.htm