Anesthesia recommendations for patients suffering from Apert syndrome - December 2011

It is thought that the affected chromosome is chromosome 10, and there are two main identified gene defects affecting fibroblast growth factor receptor 2 gene. The resultant abnormal receptor prevents apoptosis of cells, and so in the case of those affected by Apert syndrome, digits on both hands and feet may be fused. These fusions can be either cutaneous or bony. Receptors found in the cranium are also affected and thus cause premature fusion of sutures resulting in craniosynotosis.