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Pronounced: Krooz-on SIN-drom
by Rick Alan
Crouzon syndrome is a genetic disorder. It results in abnormal joining of the bones in the skull and face.
Infants have sutures between the bones in the face and skull. As an infant’s brain grows, these sutures allow the skull to expand. These sutures fuse together by adulthood when the skull and brain stop growing.
In Crouzon syndrome, the bones in the skull and face fuse too early. The skull is then forced to grow in the direction of the remaining open sutures. This causes an abnormally shaped head, face, and teeth.
Crouzon syndrome is caused by a defect in a specific gene known as FGFR2 (fibroblast growth factor receptor 2). It is not clear what causes this gene to mutate. Some may be inherited from parents' genes.
Risk Factors TOP
Factors that may increase your child's chance of Crouzon syndrome include:
Symptoms of Crouzon syndrome include:
Other symptoms and complications that can result from Crouzon syndrome include:
Crouzon syndrome can usually be diagnosed based on physical signs and symptoms.
Images may be taken of the skull, spine, or hands. This can be done with:
Your doctor may also do genetic testing to confirm the diagnosis.
There is no cure for Crouzon syndrome. Currently, many of the symptoms can be treated with surgery.
Treatment may include:
There are a number of surgeries used to treat the symptoms of Crouzon syndrome. These include:
Orthodontic treatment can help correct the alignment of teeth. It may include braces.
Eye and Ear Treatment TOP
Specialists should monitor infants and children with Crouzon syndrome. They can check for eye and ear problems and treat them as necessary.
Supportive Treatment TOP
Children with a mental deficiency or intellectual disability may need special education help.
There is no known way to prevent Crouzon syndrome. If you have Crouzon syndrome or have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.
Cleft Palate Foundation
Office of Rare Diseases Research
Sick Kids—The Hospital for Sick Children
Kjaer I, Hansen BF, Kjaer KW, Skovby F. Abnormal timing in the prenatal ossification of vertebral column and hand in Crouzon syndrome. Am J Med Genet. 2000;90(5):386-389.
Craniosynostosis. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T289820/Craniosynostosis. Updated August 5, 2016. Accessed September 23, 2016.
Crouzon syndrome. NIH Office of Rare Disease website. Available at: https://rarediseases.info.nih.gov/gard/6206/crouzon-syndrome/resources/1. Updated November 7, 2016. Accessed June 6, 2016.
Dalben Gda S, Costa B, Gomide MR. Oral health status of children with syndromic craniosynostosis. Oral Health Prev Dent. 2006;4(3):173-179.
Perlyn CA, Morriss-Kay G, Darvann T, Tenenbaum M, Ornitz DM. A model for the pharmacological treatment of crouzon syndrome. Neurosurgery. 2006 Jul;59(1):210-215.
Last reviewed June 2016 by Kari Kassir, MD
Last Updated: 6/3/2014
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