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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.

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:

  • 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
  • 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.

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.

Alternative Names

Acrocephalosyndactyly

Images

References

Kinsman SL, Johnston MV. Congenital anomalies of the central nervous system. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 591.

Robin NH, Falk MJ, Haldeman-Englert CR. FGFR-related craniosynostosis syndromes. GeneReviews. Seattle, WA: University of Washington; 2011:11. PMID: 20301628 www.ncbi.nlm.nih.gov/pubmed/20301628. Accessed August 1, 2015.

Update Date 8/1/2015

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