What is Apert Syndrome?

Apert syndrome is a genetic disorder characterized by premature fusing of the bones in the skull and by fusing of the fingers and toes. Also known as acrocephalosyndactyly, this condition is relatively rare, and there are treatments available to normalize the patient's appearance and reduce the risk of developing secondary complications. Most cases of Apert syndrome appear to arise as a result of spontaneous mutations, although a parent with the condition can also pass it on to a child.

When babies are born, their skulls consist of a collection of loose plates of bone which are designed to expand over time to allow the brain to develop. As people age, the plates in their skulls start to fuse together, eventually turning solid in adolescence. In children with Apert syndrome, the bones fuse together too soon in a condition called craniosynostosis. As a result, the brain does not have room to grow, which can contribute to developmental delays, and facial abnormalities usually occur.

Children with Apert syndrome tend to have sunken faces with bulging eyes, beaky noses, and poorly formed jaws. They can develop dental problems as a result of crowding and other dental abnormalities, and they are at risk for breathing and vision problems as well. The treatment for the facial abnormalities is surgery to separate the plates of the skull so that the brain has room to grow. Surgery can also include plastic surgery to repair the structures of the face so that the child has a more normal appearance.

Surgery to correct the syndactyly or fusing of the digits can also be performed. This surgery will give the child a greater range of motion in addition to resolving the aesthetic issue of fused fingers and toes. With these treatments, the child can live a very normal and active life, and an Apert syndrome child may experience no major developmental delays. Children who experience complications and delays can benefit from occupational therapy and treatments to address specific issues such as breathing problems.

It can be difficult to identify Apert syndrome during pregnancy, as it may not be readily apparent in ultrasounds. The condition is usually identified at birth because of the obvious physical abnormalities, and a doctor may recommend surgery as quickly as possible to address the problems. The earlier surgery is performed, the better the prognosis for the patient, as early intervention can reduce facial and brain abnormalities. Follow up surgeries may be required later to address cosmetic issues.