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Diseases

Genetic and Rare Diseases Information Center (GARD)

Crouzon syndrome


Other Names for this Disease
  • Craniofacial dysostosis type 1
  • CFD1
  • 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.

Overview

Crouzon syndrome is a disorder characterized by early fusion of certain skull bones (craniosynostosis). This prevents normal growth of the skull, which can affect the shape of the head and face. Signs and symptoms of Crouzon syndrome may include wide-set, bulging eyes; strabismus (misalignment of the eyes); a small, "beak-shaped" nose; and an underdeveloped upper jaw.[1][2] Other features may include dental problems, hearing loss, and/or cleft lip and palate. The severity of signs and symptoms can vary among affected people, even within a family. Intelligence is usually normal, but intellectual disability may be present.[1][3] Crouzon syndrome is caused by changes (mutations) in the FGFR2 gene and is inherited in an autosomal dominant manner. Treatment may involve surgeries to prevent complications, improve function, and aid in healthy psychosocial development.[1][4][2]
Last updated: 6/8/2016

References

  1. Crouzon syndrome. Genetics Home Reference. February 2008; http://ghr.nlm.nih.gov/condition/crouzon-syndrome. Accessed 11/7/2015.
  2. Eric Arnaud, Corinne Collett, Federico Di Rocco. Crouzon diease. Orphanet. November, 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207.
  3. Marla J. F. O'Neill. Crouzon Syndrome. OMIM. March 18, 2016; http://www.omim.org/entry/123500.
  4. Hollier LH. Craniosynostosis syndromes. UpToDate. August 25, 2015; http://www.uptodate.com/contents/craniosynostosis-syndromes. Accessed 11/7/2015.
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Basic Information

  • The Cleft Palate Foundation develops brief, informational documents that cover specific topic areas related to cleft lip and palate and other craniofacial disorders.  Click on the link to read the Crouzon syndrome fact sheet.   
  • The Children's Craniofacial Association has published the booklet "A Guide to Understanding Crouzon Syndrome" for parents. Click on the link to read the booklet.
  • Genetics Home Reference (GHR) contains information on Crouzon syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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
  • Craniofacial dysostosis type 1
  • CFD1
  • 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.