Williams syndrome

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Synonyms: Deletion 7q11.23 | Monosomy 7q11.23 | Williams-Beuren syndrome

A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance cardiac anomalies (most frequently supravalvular aortic stenosis) cognitive and developmental abnormalities and connective tissue abnormalities (e.g. joint laxity). Facial dysmorphism is characterized by a broad forehead bitemporal narrowing periorbital fullness stellate and/or lacy iris pattern short upturned nose with bulbous tip long philtrum wide mouth full lips and mild micrognathia.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Williams syndrome?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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