Crouzon syndrome

Summary
Synonym
  • Craniofacial Dysostosis
Definition
A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.
Super Class
craniosynostosis
Disease Ontology
DOID:2339
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2263 FGFR2 fibroblast growth factor receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
14183 Fgfr2 fibroblast growth factor receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
25022 Fgfr2 fibroblast growth factor receptor 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
39564 btl breathless
42160 htl heartless
Displaying 1 entry
Gene ID Gene Symbol Description Source
352940 fgfr2 fibroblast growth factor receptor 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: December 9, 2024