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Williams-Beuren syndrome
Williams-Beuren syndrome is a rare developmental disorder that is genetically determined. Those affected are missing 26-28 genes on chromosome 7. One of these genes is crucial for the development of connective tissue, which is why it cannot form properly in people with Williams-Beuren syndrome. Other characteristics include prominent cheekbones, a bulbous nose, and usually mild to moderate cognitive impairment, while language skills and social interaction are often relatively well developed.
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Glossar
15.03.2017

