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Williams Syndrome

Genetic disorder may cause heart defect

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Updated May 13, 2005

Williams syndrome is a genetic disorder of chromosome 7 which causes distinct facial features, heart defects, and mild to moderate mental retardation. The genetic disorder, found in 95-98% of individuals with Williams syndrome, often occurs in families with no history of the syndrome. It is estimated to occur in 1 in 20,000 individuals, affects both males and females, and occurs in people of all ethnic backgrounds.

Symptoms
Individuals may vary in their symptoms of Williams syndrome, but common symptoms include:

  • High levels of calcium in the blood in childhood
  • A heart defect (more than 60% of individuals), especially a rare one called supravalvular aortic stenosis (SVAS)
  • Distinctive facial features (more than 90% of individuals) which may include short, upturned nose, wide mouth, full lips, small lower jaw, and crooked teeth or overbite
  • Mild to moderate mental retardation
  • Language, and sometimes music skills, are very strong when compared to other mental abilities. Individuals with Williams syndrome may be hyperactive, talkative, and have difficulty paying attention.

Diagnosis
Williams syndrome may be first suspected when an infant or young child develops high levels of calcium in the blood or a heart defect is discovered. Sometimes the distinctive facial features in a child who is very talkative and is mildly mentally retarded will suggest the diagnosis. Genetic testing can look for the defect on chromosome 7 and confirm the diagnosis.

Treatment
Treatment for Williams syndrome is focused on the particular health problems of each individual. High blood calcium usually does not cause symptoms and resolves on its own by 4 years of age. An echocardiogram (ultrasound of the heart) will be done to look for heart defects, especially SVAS. This defect, and others, may require surgical repair. Individuals with Williams syndrome have a higher risk than normal for kidney problems, so kidney ultrasounds will also be done.

Williams syndrome clinics
Since Williams syndrome is a complex disorder, clinics have been established to organize and coordinate care. The Williams Syndrome Association maintains a list of clinics in the U.S.. In the UK, contact the Williams Syndrome Foundation. Most individuals with Williams syndrome are healthy and lead active lives.

Information for this article was taken from:
Huang, L., & Robin, N. (2003). Williams syndrome. eMedicine, accessed at http://www.emedicine.com/ped/topic2439.htm

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