Title: Williams syndrome
Long Title: IUPAC Gold Book - Williams syndrome
DOI: 10.1351/goldbook.11383
Status: current

Definition
Congenital disorder with characteristic facies (described as elf-like), short stature, outgoing personality and mild mental retardation; associated with contiguous gene deletions on chromosome 7.

Related Terms
- Congenital: https://goldbook.iupac.org//terms/view/10552
- facies: https://goldbook.iupac.org//terms/view/10705

Source
- PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 821 (https://doi.org/10.1515/pac-2015-1202)

Other Outputs
- html: https://goldbook.iupac.org/terms/view/11383/html
- json: https://goldbook.iupac.org/terms/view/11383/json
- xml: https://goldbook.iupac.org/terms/view/11383/xml

Citation: Citation: 'Williams syndrome' in IUPAC Compendium of Chemical Terminology, 5th ed. International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.11383
License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International (https://creativecommons.org/licenses/by-sa/4.0/) for individual terms.
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Disclaimer: The International Union of Pure and Applied Chemistry (IUPAC) is continuously reviewing and, where needed, updating terms in the Compendium of Chemical Terminology (the IUPAC Gold Book). Users of these terms are encouraged to include the version of a term with its use and to check regularly for updates to term definitions that you are using.
Accessed: 2026-06-20T21:09:31+00:00