About Apert Syndrome

Apert Syndrome is a condition that affects approximately 1 out of every 160,000 to 200,000 live births, according to Apert International. It is a genetic condition that is said to be an autosomal dominant trait. This means that only one parent has to pass a faulty gene to the child for the child to be affected by the condition. Genetic testing and counseling may be helpful for people who are starting a family and are known to have a person with Apert Syndrome in the family.

A child who is affected by Apert Syndrome has a mutation in the fibroblast growth factor 2 gene. This mutation causes the bones of the skull and face to fuse together early, which makes the skull and face appear deformed. The middle section of the face and the shape of the head are most commonly affected by this condition. The eyes and nose are likely to appear deformed.

In addition to the fused bones in the head, a child with Apert Syndrome is likely to have finger or toe webbing or fusing. As the child grows, the fusing and webbing will lead to mobility problems. Short stature, cleft palate, severe acne, increased perspiration, frequent ear infections, sleep apnea and other breathing problems, bulging eyes, hearing loss and mental delays are also possible.

Treatment for Apert Syndrome consists of a series of surgeries to correct the abnormal bone fusions and webbings. It is best if these surgeries are started as soon as possible after birth. Other problems such as hearing loss and eye conditions are also treated. Because of this, treating a child with Apert Syndrome requires a full medical team.

The prognosis for a child with Apert Syndrome is dependent upon the complications she suffers from because of the condition. Generally, the earlier the child begins receiving treatments, the better the outlook. Many children live long and active lives comparable with a person born healthy. However, a significant portion of the child's early, teen and young adult years may be spent in the hospital because of the various surgeries required to treat the condition.

Living with Apert Syndrome as a young adult and adult poses some unique problems. Because of the physical deformities associated with this condition, finding friends and possibly a spouse, may prove to be difficult. If and when a spouse is found, the decision to have children must be taken seriously. As a person affected with Apert Syndrome, any child produced has a 50 percent chance of being affected with the condition.

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