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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]
References
- Crouzon syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/crouzon-syndrome. Accessed March 24, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Crouzon syndrome have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- TheCleft 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 sydrome facsheet.
- The Children's Craniofacial Associaion has published a series of 'A Guide to Understanding' booklets for parents, which explain craniofacial conditions and their treatment. Click on the link to read the Guide to Understanding Crouzon Syndrome booklet.
- Genetics Home Reference (GHR) contains information on Crouzon syndrome. Click on the link to go to GHR and review the 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Crouzon syndrome. Click on the link to go to OMIM and review these resources.