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 May 2026
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.
Advocacy Organizations
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
RareDNA Foundation
Dedicated to improving outcomes for individuals and families affected by rare DNA heart mutations by advancing awareness, access and action. We increase awareness among medical professionals and the public, provide education and resources on diagnosis and treatment, support scientific research, and advocate for faster diagnostic pathways, giving families the knowledge and care they need.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.