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2499 pages added, reviewed or updated during the last month (last updated: 18/4/2021)

2499 pages added, reviewed or updated during the last month (last updated: 18/4/2021)


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Crouzon's syndrome

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Crouzon's Syndrome is a craniosynostosis syndrome that has an incidence of about 1 in 70,000 live births. It is caused by a range of mutations in the fibroblast growth factor receptor 2 gene (FGFR2) gene. However, the A391E mutation of FGFR3 can also cause a Crouzon's phenotype.

It is characterised by:

  • bicoronal craniosynostosis; leads to turricephaly
  • mid-face hypoplasia:
    • hypotelorism
    • shallow orbits - exorbitism
  • mid-face retrusion leading to obstructive sleep apnoea

Other than genetic confirmation, the important clinical finding of normal hands helps identify Crouzon's from the differentials of Apert's and Pfeiffer's syndromes.

Last reviewed 01/2018

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