Apert syndrome

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

Apert syndrome can be passed down through families (inherited) as an autosomal dominant trait. This means that only one parent needs to pass on the faulty gene for a child to have the condition.

Autosomal dominant

Autosomal dominant is one of several ways that a trait or disorder can be passed down (inherited) through families. In an autosomal dominant disease,...

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Some cases may occur without a known family history.

Apert syndrome is caused by one of two changes to the FGFR2 gene. This gene defect causes some of the bony sutures of the skull to close too early. This condition is called craniosynostosis .

Craniosynostosis

Craniosynostosis is a birth defect in which one or more of the sutures on a baby's head closes earlier than usual. The skull of an infant or young c...

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Symptoms

Symptoms include:

• Early closure of sutures between bones of the skull, noted by ridging along sutures (craniosynostosis)
• 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 midface
• Skeletal (limb) abnormalities

  Skeletal (limb) abnormalities

  Skeletal limb abnormalities refers to a variety of bone structure problems in the arms or legs (limbs).

   

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• Short height
• Webbing or fusion of the toes

Several other syndromes can lead to a similar appearance of the face and head, but do not include the severe hand and foot features of Apert syndrome. These similar syndromes include:

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

Exams and Tests

The health care provider will perform a physical exam. Hand, foot, and skull x-rays will be done. Hearing tests should always be performed.

Skull x-rays

A skull x-ray is a picture of the bones surrounding the brain, including the facial bones, the nose, and the sinuses.

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Genetic testing can confirm the diagnosis of Apert syndrome.

Treatment

Treatment consists of surgery to correct abnormal bone growth of the skull, as well as for the fusion of the fingers and toes. Children with this disorder should be examined by a specialized craniofacial surgery team at a children's medical center.

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

Support Groups

Children's Craniofacial Association: www.ccakids.com

When to Contact a Medical Professional

Call your 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 helpful if you have a family history of this disorder and are planning to become pregnant. Your provider can test your baby for this disease during pregnancy.