What is Apert Syndrome?

Apert Syndrome, a form of craniosynostosis, is a genetic condition primarily involving distortions of the head and face. Distortions develop when the bone sections of the skull (sutures) fuse together too early in the life of the baby. Patients with Apert Syndrome typically have premature fusion of multiple cranial sutures.

Physical characteristics include:

• Skull. When the sutures fuse together while the brain is still growing, the head and face become misshapen. The sutures most commonly affected are the coronal sutures, which extend from ear to ear.
• Eyes. The eyes of these patients appear to "bulge out" due to the fact that their skull base and mid-face fails to grow in a normal fashion.

• Face. The mid-face has a sunken-in appearance, the upper jaw slopes backward, lower teeth project in front of the upper teeth.

• Palate. The palate is often high and arched, and sometimes cleft palate occurs.
• Hands and feet. Most children with Apert Syndrome have some degree of webbing between the fingers or toes.

Causes of Apert Syndrome

There are no known causes or risk factors for Apert Syndrome. It can be an inherited condition—a person with the condition has a 50% chance of passing this down to his or her children. More commonly though, it is a completely random occurrence.

Health Risks of Apert Syndrome

Besides the physical characteristics, other health risks are also associated with Apert Syndrome. These conditions and their severity vary from patient to patient. These conditions can include:

• Cleft palate. About 30% of children with Apert Syndrome are affected.
• Slower learning rates and abilities. About 50% of children with Apert Syndrome are affected; however, as the children grow older, they often catch up with their peers.
• Vision. Problems can occur due to imbalance of the eye muscles.
• Ear infections. Children with Apert Syndrome are often inclined towards recurrent ear infections, which can lead to hearing loss.
• Breathing and sleep problems. The smaller nose and airway passages may make breathing difficult. Sleep apnea can occur frequently.
• Sweating. Hyperactive sweat glands may cause your child to sweat a lot, especially while sleeping.
• Acne. Problems with acne are more likely, especially during puberty.

Treatment Options

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