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Apert syndrome


Alternative names

Acrocephalosyndactyly

Definition

Apert syndrome is a genetic disease. It can be inherited or it may occur without a known family history. It is characterized by premature closure of the seams between the skull bones, which results in a peaked head and an unusual facial appearance.

Causes, incidence, and risk factors

Apert syndrome is transmitted as an autosomal dominant trait (which means that only one parent needs to have the condition for a child to potentially be affected). Some cases also appear spontaneously without a family history. The condition is caused by mutations in a gene called fibroblast growth factor receptor 2.

This mutation causes some of the bony sutures of the skull close prematurely (a process called craniosynostosis) which can cause asymmetric growth and give the head a distorted shape. The face is distinctive looking and there may be full-length webbing or fusion between the 2nd, 3rd and 4th fingers, as well as the toes. In addition, as the child grows, the bones in the hands and feet become progressively fused, which reduces flexibility and function.

There are several other syndromes which have a similar appearance and include craniosynostosis (premature suture fusion):

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

Symptoms

  • family history of Apert syndrome
  • 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
  • unusual facial appearance resulting from severe under-development of the mid-face
  • prominent and/or bulging eyes
  • fusion or severe webbing of several adjacent fingers and toes (severe syndactyly), often called "mitten hands"
  • intellectual development may be retarded to varying degrees
  • short stature
  • hearing loss
  • frequent ear infections

Signs and tests

A skull X-ray which demonstrates premature closure and a clinical exam can confirm the diagnosis of craniosynostosis (premature fusion of skull sutures). 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 given.

Treatment

Treatment consists of surgery to correct the skull, mid-face and palate, after evaluation by a multispecialty cranio-facial surgery team at a children's medical center. To optimize treatment of hearing problems, see a hearing specialist.

Support Groups

Apert Syndrome Pen Pals, (401) 454-4849

Expectations (prognosis)

The prognosis varies from child to child.

Complications

Other congenital abnormalities may exist and 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.

Update Date: 8/6/2003

Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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Last updated: Tue, 06 Jan 2009 00:20:03 GMT
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