What is Crouzon syndrome?
Crouzon syndrome is the most common type of syndromic (or ‘complex’) craniosynostosis. However, although it is thought to occur in around 1 in 25,000 births, it is still very rare.
In Crouzon syndrome, one or both coronal sutures coronal sutures fuse before birth and other sutures may be affected too, making the skull misshapen. The bones in the midface and around the eyes are also affected.
What causes Crouzon syndrome?
Crouzon syndrome is a genetic condition, caused by a mutation (change) on a specific gene. Research has identified the affected genes as the Fibroblast Growth Factor Receptor 2 (FGFR2) gene and FRGR3. They affect how certain cells in the body – including bone cells – grow, divide and die.
The gene mutation can be inherited (passed on from parent to child), but in many cases develops sporadically (out of the blue). If it is inherited, it is passed on in an autosomal dominant manner – this means that if one parent is affected, there is a 50% chance their child will inherit it.
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