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Crouzon Syndrome

Deformities of head and face present

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Updated January 18, 2004

Crouzon syndrome is a genetic disorder of Chromosome 10. In the United States it is estimated to affect 1 per 60,000 live births. Crouzon syndrome affects individuals of all ethnic backgrounds. It may be inherited or it may occur spontaneously.

Symptoms
Crouzon syndrome is usually diagnosed in infancy because of its particular face and skull deformities, which are:

  • Early fusion of the bones of the skull (craniosynostosis), causing a misshapen head
  • The skull problems may push the brain down (tonsillar herniation), and may obstruct the flow of cerebrospinal fluid (hydrocephalus)
  • The nose and upper jaw appear sunken in because of poor bone growth in the face (midface hypoplasia)
  • The eyes may appear to pop out (exophthalmos or proptosis) for the same reason (midface hypoplasia)

There may be other internal problems with the face and head such as narrow or absent ear canals, problems with the teeth and palate, and problems with the nose and sinuses. In some individuals with Crouzon syndrome (about 18%), two or more bones of the neck may be fused together.

Some individuals with the syndrome (about 5%) may also have a skin disorder called acanthosis nigricans, in which lesions of darkened, thickened skin are present.

Treatment
There is no specific treatment for Crouzon syndrome, so medical care focuses on managing symptoms and surgically correcting deformities. Opening up the fused cranial bones is usually done early to prevent pressure on the brain. Plastic surgery can reconstruct the facial bones. Orthodontics can help problems with the teeth. Speech therapy can help children with Crouzon syndrome learn to communicate. People with the syndrome usually have a normal lifespan.

Information for this article was taken from:
Chen, H. (2002). Crouzon syndrome. eMedicine, accessed at http://www.ememdicine.com/ped/topic511.htm

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