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 an abnormally shaped head, face, and teeth.

Normal Open Sutures in Infant Skull (Pink)
Infant Soft Spot

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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: 11/3/2020