Rare Genetic Disease: Apert Syndrome

Have you ever heard of a rare genetic disorder, where the cause is unknown? Apert syndrome is a congenital disorder (birth defect) that causes abnormal development of the skull, and occurs in about 1:200,000 live births.

Apert syndrome, most likely to be autosomal dominant, causes babies to be born with a distorted shape of the head and face, as well as toes and fingers fused together. The premature bone fusion is called craniosynostosis. The brain in the affected individuals continues to grow in the abnormal skull, putting pressure on the bones in the skull and face.

The characteristic symptoms are a long head with wide forehead and bulging eyes with poorly-closing eyelids. Poor intellectual development due to the distorted growth of the brain. As well as hearing loss and crowded teeth, which are caused by the underdevelopment of the jaw.

Although ⅔ of the cases are due to a C to G mutation at the position 755 in the FGFR2 gene, research is yet to determine the exact cause of Apert syndrome. The function of the gene has been established. The mutated gene is normally responsible for guiding the bones to join together at the right time during the development of the baby, while still in the womb.

There is no cure for the disease, however, surgery for release of the skull bones allows a chance for the brain to develop normally. The prognosis for patients, who are raised in a healthy family and have the surgery at an early age (between 6 and 8 months), thus have higher chances reaching normal intellectual ability, are good. Unless they have a heart problem, they can live a long life with a high IQ.