Crouzon syndrome is a genetic disorder. It results in abnormal joining of the bones in the skull and face.
Infants have sutures between the bones in the face and skull. As an infant’s brain grows, these sutures allow the skull to expand. These sutures fuse together by adulthood when the skull and brain stop growing.
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)
Copyright © Nucleus Medical Media, Inc.
Crouzon syndrome is caused by a defect in a specific gene known as FGFR2 (fibroblast growth factor receptor 2). It is not clear what causes this gene to mutate. Some may be inherited from parents' genes.
Factors that may increase your child's chance of Crouzon syndrome include: Parents with the disorderParents who do not have the disorder, but who carry the gene that causes the disorder.Fathers at an older age at the time of conception
Symptoms of Crouzon syndrome include: Flattened top and back of headFlattened forehead and templesMid-face that is small and located further back in the face than normalBeak-like noseCompression of nasal passages, often
causing reduced airflow through the noseLarge, protruding lower jawMisalignment of teethHigh-arched, narrow palate, or cleft palate
Other symptoms and complications that can result from Crouzon syndrome include: Problems with development of the inner ear and hearing lossMeniere’s disease—lightheadedness, vertigo, or ringing in the ears
Problems with the eyes, including vision problems, crossed eyes, or involuntary eye movementCurvature of the spineHeadachesAcanthosis nigricans—small, dark, velvety patches of skinHydrocephalus—build up of fluid in the skull
Crouzon syndrome can usually be diagnosed based on physical signs and symptoms.
Images may be taken of the skull, spine, or hands. This can be done with: X-raysMRI scanCT scan
Your doctor may also do genetic testing to confirm the diagnosis.
There is no cure for Crouzon syndrome. Currently, many of the symptoms can be treated with surgery.
Treatment may include:
There are a number of surgeries used to treat the symptoms of Crouzon syndrome. These include: Craniectomy—Removal and replacement of portions of the skull. Done as early as possible after birth to prevent damage to the brain. It will also help to
maintain a skull shape that is as normal as possible.Surgery to treat protrusion of one or both eyeballs—Adjustments are made to the bones surrounding the eye sockets.Surgery to treat protruding lower jaw—To normalize the appearance of the jaw.Surgery to repair a cleft palate.
Orthodontic treatment can help correct the alignment of teeth. It may include braces.
Specialists should monitor infants and children with Crouzon syndrome. They can check for eye and ear problems and treat them as necessary.
Children with a mental deficiency or intellectual disability may need special education help.
There is no known way to prevent Crouzon syndrome. If you have Crouzon syndrome or have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.
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NIH Office of Rare Disease
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Updated November 7, 2016. Accessed June 6, 2016.
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Last reviewed June 2016 by Kari Kassir, 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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