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Genetics Home Reference: your guide to understanding genetic conditions
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Crouzon syndrome

Reviewed February 2008

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.

Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In addition, people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few people with Crouzon syndrome have 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.

How common is Crouzon syndrome?

Crouzon syndrome is seen in about 16 per million newborns. It is the most common craniosynostosis syndrome.

What genes are related to Crouzon syndrome?

Mutations in the FGFR2 gene cause Crouzon syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. Mutations in the FGFR2 gene probably overstimulate signaling by the FGFR2 protein, which causes the bones of the skull to fuse prematurely.

Related Gene(s)

Changes in this gene are associated with Crouzon syndrome.

  • FGFR2

How do people inherit Crouzon syndrome?

This condition is inherited in an autosomal dominant pattern, which means 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.

Where can I find information about diagnosis or management of Crouzon syndrome?

These resources address the diagnosis or management of Crouzon syndrome and may include treatment providers.

  • Gene Review: FGFR-Related Craniosynostosis Syndromes (http://www.ncbi.nlm.nih.gov/books/NBK1455)
  • Genetic Testing Registry: Crouzon syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0010273)
  • MedlinePlus Encyclopedia: Craniosynostosis (http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm)

You might also find information on the diagnosis or management of Crouzon syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/crouzon-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/crouzon-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Crouzon syndrome?

You may find the following resources about Crouzon syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Crouzon syndrome?

  • Craniofacial dysarthrosis
  • Craniofacial Dysostosis
  • Craniofacial dysostosis syndrome
  • Craniofacial dysostosis, type 1; CFD1
  • Crouzon craniofacial dysostosis
  • Crouzon's Disease
  • Crouzons Disease

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Crouzon syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Crouzon syndrome?

autosomal ; autosomal dominant ; bulging eyes ; cell ; craniofacial ; craniosynostosis ; embryonic ; fibroblast ; gene ; growth factor ; inherited ; mutation ; palate ; protein ; receptor ; strabismus ; syndrome ; upper jaw

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Carinci F, Pezzetti F, Locci P, Becchetti E, Carls F, Avantaggiato A, Becchetti A, Carinci P, Baroni T, Bodo M. Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix. J Craniofac Surg. 2005 May;16(3):361-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15915098?dopt=Abstract)
  • Galvin BD, Hart KC, Meyer AN, Webster MK, Donoghue DJ. Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras. Proc Natl Acad Sci U S A. 1996 Jul 23;93(15):7894-9. (http://www.ncbi.nlm.nih.gov/pubmed/8755573?dopt=Abstract)
  • Gene Review: FGFR-Related Craniosynostosis Syndromes (http://www.ncbi.nlm.nih.gov/books/NBK1455)
  • Gray TL, Casey T, Selva D, Anderson PJ, David DJ. Ophthalmic sequelae of Crouzon syndrome. Ophthalmology. 2005 Jun;112(6):1129-34. (http://www.ncbi.nlm.nih.gov/pubmed/15885794?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2008
Published: December 22, 2014