Pronounced: Krooz-on SIN-drom
Crouzon syndrome is a genetic disorder. It is one of many birth defects that results in abnormal fusion between bones in the skull and face. Normally, as an infant’s brain grows, open sutures between the bones allow the skull to develop normally. When sutures fuse too early, the skull grows in the direction of the remaining open sutures. In Crouzon syndrome, bones in the skull and face fuse too early. This results in an abnormally shaped head, face, and teeth.
Crouzon disease is believed to affect 1 in 60,000 people.
Crouzon syndrome is a genetic disorder. It is caused by mutations (abnormal changes) of the FGFR2 (fibroblast growth factor receptor) or less commonly of the FGFR3 genes. These genes help regulate the development of limbs. A mutation in these genes may cause bones in the skull to fuse too early. Researchers continue to learn more about the links between mutations in these genes and the various types of craniosynostosis syndromes they cause.
A risk factor is something that increases your chance of getting a disease or condition. Those most at risk for Crouzon syndrome are children of:
The main signs and symptoms of Crouzon syndrome include:
Other symptoms and complications that can result from Crouzon syndrome include:
A doctor can usually diagnosis Crouzon syndrome at birth or in early childhood based on the patient’s physical signs and symptoms. Tests are taken to confirm the diagnosis. These may include:
There is no cure yet for Crouzon syndrome. Because the molecular cause is now known, scientists are exploring ways to block the processes that lead to early fusion of the sutures without affecting other important growth processes. These efforts are currently restricted to experimental animals, but human advances may be on the horizon.
Currently, many of the symptoms can be treated with surgery. In addition, orthodontic treatment, eye and ear treatment, and supportive treatment are usually needed. Good dental care is also an important aspect of managing the care of children with Crouzon syndrome.
Treatment may include:
There are a number of surgeries used to treat the symptoms of Crouzon syndrome. These include:
Braces and other orthodontic treatments are usually necessary to help correct misalignment of teeth.
An ophthalmologist (eye specialist) and otolaryngologist (ear, nose, and throat specialist) should monitor infants and children with Crouzon syndrome. These specialists can check for problems and provide corrective treatment as necessary.
This includes special education for children with a mental deficiency or mental retardation.
RESOURCES:
Cleft Palate Foundation
http://www.cleftline.org
Crouzon Syndrome
http://www.familyvillage.wisc.edu/lib_crouz.htm
National Institute of Dental and Craniofacial Research
http://www.nidr.nih.gov
CANADIAN RESOURCES:
The Centre for Craniofacial Care and Research at SickKids
http://www.sickkids.ca/craniofacial/
References:
Abnormal timing in the prenatal ossification of vertebral column and hand in Crouzon syndrome. Am J Med Genet . 2000 Feb 28.
Craniosynostosis syndromes (FGFR-related). GeneReviews at GeneTests, GeneClinics: Medical Genetics Information Resource (database online). University of Washington, Seattle, 1997-2002 (updated weekly). Available at: http://www.genetests.org. Accessed November 2004 .
Dalben Gda S, Costa B, Gomide MR. Oral health status of children with syndromic craniosynostosis. Oral Health Prev Dent . 2006;4(3):173-9.
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):210-5.
The National Center for Biotechnology Information website. Available at: http://www.ncbi.nlm.nih.gov/ .
National Institute of Dental and Craniofacial Research website. Available at: http://www.nidcr.nih.gov/ .
Last reviewed November 2008 by Rosalyn Carson-DeWitt, 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.
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