Search for a rare disease
Other search option(s)
Williams syndrome
Disease definition
Williams syndrome is 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 (such as joint laxity)
ORPHA:904
Detailed information
Article for general public
Professionals
- Summary information
- Slovak (2006, pdf)
- Review article
- Français (2006, pdf)
- Clinical practice guidelines
- Français (2014, pdf)
- Guidance for genetic testing
- English (2014, pdf)
- Clinical genetics review
- English (2017)
- Disability factsheet
- Español (2017, pdf)
- Français (2013, pdf)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.