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Williams Syndrome

What is Williams Syndrome?

Williams syndrome is a rare genetic disorder. It is a condition characterized by mental retardation, unusual facial appearance, and frequent heart abnormalities.

Williams syndrome occurs in about 1 out of every 20,000 births in the United States. It is present at birth, and affects males and females equally.

Williams Syndrome can occur in all ethnic groups and has been identified in countries throughout the world. People with Williams Syndrome have a unique pattern of emotional, physical and mental strengths and weaknesses.

Williams Syndrome was named after Dr. J.C.P. Williams. Dr. J.C.P. Williams first defined the syndrome when he noticed that many children entering his hospital with cardiovascular problems shared other traits in common, particularly facial features and an unusually friendly and social demeanor.

What causes Williams Syndrome?

Williams syndrome is caused by an abnormality in chromosomes. Most individuals with Williams syndrome are missing genetic material on chromosome #7. No two individuals with Williams syndrome have exactly the same problems. The problems range from lack of co-ordination, slight muscle weakness, possible heart defects and occasional kidney damage.

What are the common features of Williams Syndrome?

Some of the most common features of Williams syndrome are: heart and blood vessel problems, Hypercalcemia, Low birth-weight, low weight gain, extended period of colic or irritability, Dental abnormalities, Kidney abnormalities, Hernias, developmental delay, and learning disabilities.

Some of the most common physical traits of Williams syndrome are:

  • Widely spaced teeth
  • Long philtrum
  • Flattened nasal bridge

Neurologic and behavioral symptoms of Williams Syndrome:

  • Impaired visuospatial abilities with preserved facial processing
  • Impaired problem solving
  • Language abilities
  • Love of music
  • Anxiety
  • Attention deficit
  • Hypersensitivity to loud noises

How is Williams Syndrome diagnosed?

Williams syndrome can be diagnosed by a blood test.

Can Williams Syndrome be Treated?

Some of the problems associated with Williams syndrome can be treated. Unfortunately, there is no cure for Williams syndrome.

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