Williams syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Williams syndrome

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 September 2023.

Newly diagnosed with
Williams syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.