{"term":{"id":"10575","title":"Crouzon syndrome","longtitle":"IUPAC Gold Book - Crouzon syndrome","doi":"10.1351\/goldbook.10575","code":"10575","status":"current","synonym":"<em>synonym<\/em>: branchial arch syndrome","definitions":[{"id":1,"text":"Group of autosomal dominant genetic diseases characterized by midfacial hypoplasia, craniosynostosis, exophthalmos, and a shortened head.","notes":{"1":"This affects the first branchial arch (pharyngeal arch), which is the precursor of the maxilla and mandible.","2":"This syndrome is thought to be caused by a genetic mutation of the FGFR3 gene, located on chromosome 10."},"links":[{"term":"branchial arch","url":"https:\/\/goldbook.iupac.org\/\/terms\/view\/10472"},{"term":"craniosynostosis","url":"https:\/\/goldbook.iupac.org\/\/terms\/view\/10568"},{"term":"exophthalmos","url":"https:\/\/goldbook.iupac.org\/\/terms\/view\/10695"},{"term":"hypoplasia","url":"https:\/\/goldbook.iupac.org\/\/terms\/view\/10831"}],"sources":["PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 741 (https:\/\/doi.org\/10.1515\/pac-2015-1202)"]}],"altoutputs":{"html":"https:\/\/goldbook.iupac.org\/terms\/view\/10575\/html","xml":"https:\/\/goldbook.iupac.org\/terms\/view\/10575\/xml","plain":"https:\/\/goldbook.iupac.org\/terms\/view\/10575\/plain"},"citation":"Citation: 'Crouzon 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.10575","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.","collection":"If you are interested in licensing the Gold Book for commercial use, please contact the IUPAC Executive Director at executivedirector@iupac.org .","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":"2026-07-16T03:35:40+00:00"}}