Crouzon syndrome is a genetic disorder that results in the bones of the face and skull joining in the wrong way.
Infants have joints between the bones in the face and skull. They allow the skull to expand as the child grows and fuse together when growth stops. In Crouzon syndrome, the bones in the face and skull fuse too early. The skull is then forced to grow in the direction of the remaining open joints. This causes abnormally shaped head, face, and teeth.
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Crouzon syndrome is caused by a faulty gene.
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 faulty gene
- Fathers at an older age at the time of conception
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
- A feeling of spinning
The doctor will ask about your child's symptoms and health history. A physical exam will be done.
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. A team of specialists can help with problems of the eyes, ears, and teeth. Special education services will also be needed.
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 bulging 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
There are no known guidelines to prevent Crouzon syndrome.
- Craniosynostosis. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/craniosynostosis.
- Crouzon syndrome. Genetic and Rare Diseases Information Center website. Available at: https://rarediseases.info.nih.gov/diseases/6206/crouzon-syndrome.
- Kari Kuenn, MD
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