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 pass on the faulty gene for a child to have the condition.

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.

People with Apert 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 that include craniosynostosis can lead to a similar appearance of the face and head, but do not include the severe hand and foot problems of Apert syndrome. These similar syndromes include:

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

Symptoms

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

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)

What to expect will vary 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 your baby's skull is not developing normally.

Prevention

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

References

Kinsman SL, Johnston MV. Congenital Anomalies of the Central Nervous System. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 592.