Treacher Collins syndrome

synonyms: mandibulofacial dysostosis, Treacher Collins–Franceschetti syndrome
https://doi.org/10.1351/goldbook.11316

Congenital deformity characterized by structural abnormalities of the head and face.

Note: 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.
See also: craniofacial
Source:
PAC, 2016, 88, 713. (Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)) on page 814 [Terms] [Paper]
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. https://doi.org/10.1351/goldbook.11316 RIS BibTex EndNote
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