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Apert syndrome

Definition

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.

Alternative Names

Acrocephalosyndactyly

Causes, incidence, and risk factors

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:

• Carpenter syndrome (kleeblattschadel, cloverleaf skull deformity)
• Crouzon disease (craniofacial dysostosis)
• Saethre-Chotzen syndrome
• Pfeiffer syndrome

Symptoms

• Skeletal (limb) abnormalities
• Early closure of sutures between bones of the skull, noted by ridging along sutures
• Large or late-closing soft spot on a baby's skull
• Severe under-development of the mid-face
• Prominent or bulging eyes
• Fusion or severe webbing of the 2nd, 3rd, and 4th fingers, often called "mitten hands"
• Webbing or fusion of the toes
• Possible, slow intellectual development (varies from person to person)
• Short height
• Hearing loss
• Frequent ear infections

Signs and tests

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

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

Children's Craniofacial Association -- www.ccakids.com

Expectations (prognosis)

The prognosis varies from child to child.

Complications

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

Calling your health care provider

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

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

Review Date:7/1/2007
Reviewed 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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