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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

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

References

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

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Crouzon syndrome. Click on the link to view a sample search on this topic.
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.