Crouzon syndrome

synonym: branchial arch syndrome
https://doi.org/10.1351/goldbook.10575

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.
Source:
PAC, 2016, 88, 713. (Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)) on page 741 [Terms] [Paper]
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. https://doi.org/10.1351/goldbook.10575 RIS BibTex EndNote
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