Crouzon Syndrome

(Craniofacial Dysostosis)

How to Say It: Krooz-on SIN-drom

by Cynthia M. Johnson, MA

Definition

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)

Causes

Crouzon syndrome is caused by a faulty gene. It is not clear what causes this gene to change.

Risk Factors

Things that may raise the risk of this problem are:

Having parents with the disorder
Parents who do not have the disorder but who carry the gene that causes it
Fathers at an older age at the time of conception

Symptoms

Problems may be:

Flattened top and back of head
Flattened forehead and temples
Mid-face that is small and further back in the face than normal
Beak-like nose
Problems breathing through the nose
Large, protruding lower jaw
Misalignment of teeth
High-arched, narrow palate, or cleft palate
Hearing problems
Vision problems
Headaches
Lightheadedness
A feeling of spinning

Diagnosis

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.

Treatment

There is no cure. The goal is to manage symptoms. Choices are:

Orthodontic treatment to align the teeth
Treating eye and ear problems
Supportive care, such as special education services
Surgery may be done to:
- Remove and replace parts of the skull soon after birth to prevent damage to the brain and help maintain skull shape
- Treat bulge of one or both eyeballs by adjusting the bones around the eye sockets
- Treat a protruding lower jaw to make it look more normal
- Fix a cleft palate

Prevention

There are no known guidelines to prevent this health problem.

RESOURCES:

American Cleft Palate—Craniofacial Association
https://acpa-cpf.org/

Genetic and Rare Diseases Information Center—NIH
http://rarediseases.info.nih.gov

CANADIAN RESOURCES:

Health Canada
http://www.canada.ca

Sick Kids—The Hospital for Sick Children
http://www.sickkids.ca

References:

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
Last Updated: 5/7/2021

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