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.

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.

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.

Symptoms

Symptoms include:

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:

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.

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.


Review Date: 8/6/2017
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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