11316 IUPAC Gold Book - Treacher Collins syndrome 10.1351/goldbook.11316 11316 current synonyms: mandibulofacial dysostosis, Treacher Collins–Franceschetti syndrome 1 Congenital deformity characterized by structural abnormalities of the head and face. Autosomal dominant mutations have been identified in several genes involved in early development of bone and the tissues of the face, the most frequently implicated being TCOF1. Autosomal dominant mutations https://goldbook.iupac.org/terms/view/10449 Congenital https://goldbook.iupac.org/terms/view/10552 craniofacial https://goldbook.iupac.org/terms/view/10565 PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 814 (https://doi.org/10.1515/pac-2015-1202) https://goldbook.iupac.org/terms/view/11316/html https://goldbook.iupac.org/terms/view/11316/json https://goldbook.iupac.org/terms/view/11316/plain Citation: 'Treacher Collins 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.11316 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. If you are interested in licensing the Gold Book for commercial use, please contact the IUPAC Executive Director at executivedirector@iupac.org . 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. 2026-05-15T10:56:15+00:00