Pronounced: Krooz-on SIN-drom
by Cynthia M. Johnson, MA
Crouzon syndrome is a genetic problem. The bones in the skull and face join in the wrong way.
Infants have sutures between the bones in the face and skull. They allow the skull to expand as the child grows. They fuse together during adulthood when growth stops.
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 faulty gene known as FGFR2 (fibroblast growth factor receptor 2). It is not clear what causes this gene to change. Some may be passed on from parents' genes.
Risk Factors TOP
Factors that may raise your child's chance of Crouzon syndrome are:
Other symptoms and problems that can result from Crouzon syndrome are:
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. Many of the symptoms can be treated with surgery.
Treatment may be:
There are a number of surgeries used to treat the symptoms of Crouzon syndrome. These are:
Orthodontic treatment can help fix the alignment of teeth. It may mean braces.
Eye and Ear Treatment TOP
Specialists should watch infants and children with Crouzon syndrome. They can check for eye and ear problems and treat them as needed.
Supportive Treatment TOP
Children with an 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.
ACPA Family Services
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 July 6, 2018.
Crouzon syndrome. NIH Office of Rare Disease website. Available at: https://rarediseases.info.nih.gov/gard/6206/crouzon-syndrome/resources/1. Accessed July 6, 2018.
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 May 2018 by Kari Kassir, MD
Last Updated: 7/6/2018
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