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Syndromic Craniosynostosis

Craniosynostosis is a condition in which the fibrous sutures in an infant's skull close too early, causing problems with normal brain and skull growth. Premature closure of the sutures may also cause the pressure inside of the head to increase and the skull or facial bones to change from a normal, symmetrical appearance, resulting in an abnormal head shape and facial features.

The normal skull consists of several plates of bone that are separated by sutures. The sutures (fibrous joints) are found between the bony plates in the head. As the infant grows and develops, the sutures close, forming a solid piece of bone, called the skull.

Craniosynostosis often occurs sporadically. There are more than 150 syndromes associated with craniosynostosis. About 20 percent of cases are associated with syndromes such as Crouzon and Apert syndrome. These syndromes can sometimes be traced to a family history, although many are caused by new genetic mutations in which there is no family history associated with the disorder. If necessary, genetic testing is available to confirm the diagnosis of a specific syndrome.

Common craniosynostosis syndromes:

  • Apert syndrome
  • Crouzon syndrome
  • Pfeiffer syndrome
  • Saethre-Chotzen syndrome