Apert syndrome is a disorder that is marked by abnormal growth of skull bones. It is a genetic disorder inherited by birth and the children with this syndrome will have markedly long head and distorted face. In addition to the abnormal skull such children would also have various other problems inherited by birth. Apert syndrome is caused by defective gene mutation and it cannot be cured.
Causes :
Defective gene mutation is the root cause of Apert syndrome. During the normal development of the fetus, the bones of the skull would eventually fuse together to give the right shape. But due to repeated gene mutation the skull bones would join together and close before reaching full development. This is can lead to intellectual disorders since the brain would have no chance for growing fully. However this is a rare disorder that occurs in one out of million births.
In many cases, the parents would be normal but carriers of defective genes but the child would get Apert syndrome due to spontaneous gene mutation. Often the FGFR2 gene present in the 10th chromosome undergoes repeated gene mutation causing this abnormal growth.
Symptoms :
The skull bones of the affected child would fuse before complete development leading to craniosynostosis. But the brain inside the skull would expand in the available space thereby exerting pressure on the skull and face. Prominent symptoms of Apert syndrome are abnormal growth of skull and face, high forehead, sunken face, bulging eyes and very low intellectual development. For some children it can also cause loss of hearing or chronic ear infections. The hands and feet of such children would be abnormally long with webbed hands (like a frog). In addition some children may also develop heart and urinary tract problems.