Beuren syndrome
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Facts (generated by robot; please edit if you find it inaccurate)
- Williams syndrome is the more common US name, while Williams-Beuren syndrome is the more commonly used term in Europe.
- Discussion Williams-Beuren syndrome is a rare genetic condition, with an incidence of 1:20,000 live births and sporadic occurrence in most cases, despite reports of familial recurrence with dominant autosomal inheritance and variable penetrance 8.
- Williams-Beuren syndrome is an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7.
- Williams-Beuren syndrome is an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7.
- PURPOSE: Williams-Beuren syndrome is a rare multiple anomalies/mental retardation syndrome caused by deletion of contiguous genes at chromosome region 7q11.
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