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Williams syndrome

  • Definition

    Williams syndrome is a rare genetic disorder that can lead to problems with development.

    Alternative Names

    Williams-Beuren syndrome

    Causes, incidence, and risk factors

    Williams syndrome is a rare condition caused by missing genes. 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 of his or her children. The cause usually occurs randomly.

    Williams syndrome occurs in about 1 in 8,000 births.

    One of the 25 missing genes is the gene that produces elastin, a protein that allows blood vessels and other tissues in the body to stretch. It is likely that having only one copy of this gene results in the narrowing of blood vessels seen in this condition.