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 the time we are adults and our skulls and brains are done 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.
Factors that may increase your child's risk 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.
Specialist should monitor infants and children with Crouzon syndrome. These specialists can check for eye and ear problems and treat as necessary.
Cleft Palate Foundation
Office of Rare Diseases Research—National Institutes of Health
Sick Kids—The Hospital for Sick Children
Abnormal timing in the prenatal ossification of vertebral column and hand in Crouzon syndrome. Am J Med Genet. 2000 Feb 28.
Craniosynostosis. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated November 28, 2011. Accessed June 3, 2014.
Crouzon Syndrome. NIH Office of Rare Disease website. Available at: http://rarediseases.info.nih.gov/GARD/QnASelected.aspx?diseaseID=6206. Updated March 24, 2011. Accessed June 3, 2014.
Dalben Gda S, Costa B, et al. Oral health status of children with syndromic craniosynostosis. Oral Health Prev Dent. 2006;4(3):173-179.
Perlyn CA, Morriss-Kay G, et al. A model for the pharmacological treatment of crouzon syndrome. Neurosurgery. 2006 Jul;59(1):210-215.
Last reviewed June 2014 by Kari Kassir, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.