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Apert syndrome

Contents of this page:



Alternative Names    Return to top


Definition    Return to top

Apert syndrome is a genetic disease in which the seams between the skull bones close earlier than normal. This affects the shape of the head and face.

Causes    Return to top

Apert syndrome can be passed down through families (inherited). The syndrome is inherited as an autosomal dominant trait, which means that only one parent needs to have the condition for a child to be affected.

Some cases may occur without a known family history.

Apert syndrome is caused by mutations in a gene called fibroblast growth factor receptor 2. This gene defect causes some of the bony sutures of the skull to close too early, a condition called craniosynostosis. Persons with this syndrome have a distinctive looking face, and there may be full-length webbing or fusion between the 2nd, 3rd, and 4th fingers, as well as the toes. As the child grows, the bones in the hands and feet become progressively fused, which reduces flexibility and function.

Several other syndromes have a similar appearance and include craniosynostosis. They include:

Symptoms    Return to top

Exams and Tests    Return to top

A skull x-ray and physical exam can confirm the diagnosis of craniosynostosis.

Hand or foot x-rays are also very important to determine the extent of bone problems.

A genetic test for mutations in the fibroblast growth factor receptor 2 gene can confirm the diagnosis of Apert syndrome. Hearing tests should also always be performed.

Treatment    Return to top

The patient should be evaluated by a multispecialty cranio-facial surgery team at a children's medical center. Treatment consists of surgery to correct abnormal bone growth of the skull, mid-face, and jaw area.

A hearing specialist should be consulted if there are hearing problems.

Support Groups    Return to top

Children's Craniofacial Association --

Outlook (Prognosis)    Return to top

The prognosis varies from child to child.

Possible Complications    Return to top

Other birth defects may exist. Each child should be evaluated on an individual basis.

When to Contact a Medical Professional    Return to top

Call your health care provider if you have a family history of Apert syndrome or you notice asymmetric growth of the skull in your baby.

Prevention    Return to top

Genetic counseling may be of value to prospective parents. Prenatal diagnosis is available.

Update Date: 7/1/2007

Updated by: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.

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