What is Apert syndrome?

Apert syndrome is a very rare type of syndromic (or complex) craniosynostosis named after the French doctor, Eugene Apert, who first described it in the early 20th century. He recognised a specific number of differences with children and realised there was a link with these differences. It is thought to occur in around 1 in 65,000 live births.

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In Apert syndrome, several of the cranial sutures may be fused together, or none. Sometimes, some of the sutures may not be fused at birth, but begin to fuse as the child gets older. The condition also affects fingers and toes, which may be joined or webbed.

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What causes Apert syndrome?

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Apert syndrome is a genetic condition, caused by a mutation (change) on a specific gene.  Research has identified the affected gene as the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. This affects how certain cells in the body – including bone cells  and the craniofacial sutures – grow, divide and die. 

 

In most cases of Apert syndrome, it occurs sporadically, that is, there is no family history of Apert syndrome  The gene mutation can be passed on from parent to child, but in many cases develops out of the blue.  If it is inherited from an affected parent, then there is a 50% chance of any children also being affected.