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:
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