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Genetic and Rare Diseases Information Center (GARD)

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Crouzon syndrome


Other Names for this Disease

  • CFD1
  • Craniofacial dysostosis type 1
  • Crouzon craniofacial dysostosis
  • Crouzon disease
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Overview

What is Crouzon syndrome?

How do people inherit Crouzon syndrome?

What is Crouzon syndrome?

Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. The abnormal growth of the bones in the skull causes wide-set, bulging eyes, eyes that do not point in the same direction (strabismus), a beaked nose, and an underdeveloped upper jaw. Other features may include dental problems, hearing loss, and an opening in the lip and the roof of the mouth (cleft lip and palate). The severity of these signs and symptoms varies among affected people. People with Crouzon syndrome are usually of normal intelligence. Crouzon syndrome is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant fashion.[1]
Last updated: 3/24/2011

How do people inherit Crouzon syndrome?

Crouzon syndrome is inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Individuals with Crouzon syndrome have a 50% chance of having offspring with this condition.[1]
Last updated: 3/24/2011

References
  1. Crouzon syndrome. Genetics Home Reference. February 2008; http://ghr.nlm.nih.gov/condition/crouzon-syndrome. Accessed 3/24/2011.


Other Names for this Disease
  • CFD1
  • Craniofacial dysostosis type 1
  • Crouzon craniofacial dysostosis
  • Crouzon disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.