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Alternative namesWilliams-Beuren syndrome
DefinitionWilliams syndrome is a genetic disorder characterized by mild mental retardation , distinctive facial appearance, problems with calcium balance, and blood vessel disease.
Causes, incidence, and risk factors
Williams syndrome is a genetic disorder characterized by developmental delay, unusual facial appearance, narrowing of the aorta (large artery that leaves the heart) and particular cognitive and personality profiles.
It is a rare condition caused by missing genetic material on one copy of chromosome 7. The problem is usually caused by a random mutation, so parents may not have any family history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder on to each child. It occurs in about 1 in 20,000 births.
One of the missing genes is the gene that produces elastin, a protein that gives elasticity to blood vessels and other tissues in the body. It is likely that having only one copy of this gene results in the narrowing of blood vessels seen in this condition.
Signs and tests
There is no cure for Williams syndrome. Supplemental calcium and vitamin D should be avoided. It is important to treat high levels of blood calcium if present. The blood vessel narrowing can be a significant health problem and is treated based on severity.
Physical therapy is helpful to patients with joint stiffness. Developmental and speech therapy can also help these children; for example, their verbal strengths can help compensate for other weaknesses. Other treatments are individualized based on a particular patient's symptoms.
Coordination of treatment by a geneticist experienced with Williams syndrome can be beneficial.
Williams Syndrome Foundation
Some degree of mental retardation is found in about 75% of patients with Williams syndrome.
Most patients have a shortened life expectancy, due to complications.
The majority of patients do not live independently of care givers.
Calling your health care provider
Many of the symptoms and signs of Williams syndrome may not be apparent at birth. Call your health care provider if you child has features that might be suggestive of Williams syndrome. Seek genetic counseling if there is a family history of Williams syndrome.
There is no known prevention for the random mutation. If there is a family history of Williams syndrome prenatal genetic testing is available.
Update Date: 1/30/2004Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT