How to Say It: Krooz-on SIN-drom
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 abnormally shaped teeth and an abnormally shaped head and face.
Normal Open Sutures in Infant Skull (Pink)Copyright © Nucleus Medical Media, Inc. |
Crouzon syndrome is caused by a faulty gene. It is not clear what causes this gene to change.
Things that may raise the risk of this problem are:
Problems may be:
The doctor will ask about your child's symptoms and health history. A physical exam will be done. This is usually enough to make the diagnosis.
Images may be taken of the skull, spine, or hands. This can be done with:
Genetic testing can confirm the diagnosis.
There is no cure. The goal is to manage symptoms. Choices are:
American Cleft Palate—Craniofacial Association
https://acpa-cpf.org/
Genetic and Rare Diseases Information Center—NIH
http://rarediseases.info.nih.gov
Health Canada
http://www.canada.ca
Sick Kids—The Hospital for Sick Children
http://www.sickkids.ca
Craniosynostosis. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/craniosynostosis. Accessed November 3, 2020.
Crouzon syndrome. NIH Office of Rare Disease website. Available at: https://rarediseases.info.nih.gov/gard/6206/crouzon-syndrome/resources/1. Accessed November 3, 2020.
Persing JA. MOC-PS(SM) CME article: management considerations in the treatment of craniosynostosis. Plast Reconstr Surg. 2008 Apr;121(4 Suppl):1-11.
Last reviewed September 2020 by EBSCO Medical Review Board Kari Kassir, MD