March 8, 2007

Apert Syndrome

Apert Syndrome is a dominant genetic disorder occurring when a fetus inherits an abnormal gene from a parent suffering from the disease. The disease is also capable of occurring through sporadic mutation of genes (i.e. there is no family history of the disease).

The presence of the mutated gene causes an alteration in the structure of the fibroblast growth factor receptor two proteins. This protein acts to signal immature cells, causing them to develop into bone cells in embryo and fetus. Alteration in the structure causes the protein to send a prolonged signal, promoting the premature fusing of bones in the head, hands and feet of a fetus.

This syndrome is characterized by abnormalities of the facial bones and cutaneous and bony fusions of the hands and feet; at a minimum, three digits on the hands and feet will be fused together.

Cranial abnormalities are caused by premature fusion of the bones of the skill which prevent it from further growing and developing normally, leading to a sunken face with low set ears, bulging wide-set eyes and an underdeveloped jaw. The physical deformities of the face predispose children to frequent ear infections and breathing obstructions.

Those suffering from the disease may also develop severe acne and display hearing loss and a cleft palate (an opening in the roof of the mouth). As malformation of the brain is also a possible side effect of Apert Syndrome, mental retardation can also occur in children suffering from the disorder.

Skull x-rays will generally be taken to confirm diagnosis of premature bone fusion in the skull and tests for mutations of Apert Syndrome are implemented to confirm the presence of Apert Syndrome.

There is no cure for Apert Syndrome; however, it is possible to address or treat complications to increase quality of life. If required, surgery should be undertaken to separate the bones of the skull to prevent the build up of pressure on the brain. In some cases it may be possible for a child to undergo surgery to correct certain skull deformities and cleft palate. If a child suffers from hearing problems related to the disorder it is best to consult a hearing specialist.

Principles of Biochemistry by Albert Lehninger, Davi...