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Article

Current Understanding of Crouzon Syndrome Pathophysiology and New Therapeutic Approaches.

The Journal of craniofacial surgery - 1 Jan 2025

Tiberio Federica, Polito Luca, Salvati Martina, Di Pietro Lorena, Massimi Luca, Parolini Ornella, Tamburrini Gianpiero, Lattanzi Wanda

Abstract excerpt

Crouzon syndrome (CS) is a rare genetic disorder characterized by the premature fusion of cranial sutures, leading to craniofacial abnormalities and potential neurological complications. CS is caused primarily by gain-of-function mutations in the FGFR2 gene and, less commonly, by mutations in the FGFR3 gene (specifically associated with CS with acanthosis nigricans). Managing CS requires a multidisciplinary...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 2

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Source

Identifiers

PMID: 40227035
DOI: 10.1097/SCS.0000000000011376

Genes

CS
FGFR2
FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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