Crouzon syndrome is a genetic disorder. It is one of many birth defects that results in abnormal fusion between bones in the skull and face. Normally, as an infant’s brain grows, open sutures between the bones allow the skull to develop normally. When sutures fuse too early, the skull grows in the direction of the remaining open sutures. In Crouzon syndrome, bones in the skull and face fuse too early. This results in an abnormally shaped head, face, and teeth.
Crouzon disease is believed to affect 1 in 60,000 people.
Crouzon syndrome is a genetic disorder. It is caused by mutations (abnormal changes) of the FGFR2 (fibroblast growth factor receptor) or less commonly of the FGFR3 genes. These genes help regulate the development of limbs. A mutation in these genes may cause bones in the skull to fuse too early. Researchers continue to learn more about the links between mutations in these genes and the various types of craniosynostosis syndromes they cause.
A risk factor is something that increases your chance of getting a disease or condition. Those most at risk for Crouzon syndrome are children of:
Parents with the disorder
Parents 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
The main signs and symptoms of Crouzon syndrome include:
Flattened top and back of head
Flattened forehead and temples
Mid-face that is small and located further back in the face than normal
Compression of nasal passages, often
causing reduced airflow through the nose
Large, protruding lower jaw
Misalignment of teeth
High-arched, narrow palate, or cleft palate
Other symptoms and complications that can result from Crouzon syndrome include:
—a test that uses radiation to take a picture of structures inside the body, especially bones
—a test that uses magnetic waves to make pictures of the inside of the body
—a type of x-ray that uses a computer to make pictures of the inside of the body
Genetic testing—tests to confirm mutations in the FGFR2 or FGFR3 gene, which may be used if the clinical findings are not sufficient to make a diagnosis
There is no cure yet for Crouzon syndrome. Because the molecular cause is now known, scientists are exploring ways to block the processes that lead to early fusion of the sutures without affecting other important growth processes. These efforts are currently restricted to experimental animals, but human advances may be on the horizon.
Currently, many of the symptoms can be treated with surgery. In addition, orthodontic treatment, eye and ear treatment, and supportive treatment are usually needed. Good dental care is also an important aspect of managing the care of children with Crouzon syndrome.
Treatment may include:
There are a number of surgeries used to treat the symptoms of Crouzon syndrome. These include:
Craniectomy involves removal and replacement of portions of the cranial bone. This surgery is done as early as possible after birth to prevent pressure on and damage to the brain and to
maintain a skull shape that is as normal as possible.
Surgery to treat exophthalmos (protrusion of one or both eyeballs). This surgery is done directly on the eye sockets or on the bones surrounding the eye sockets to help minimize exophthalmos.
Surgery to treat protruding lower jaw. This surgery is often very successful in normalizing the appearance of the jaw by removing a portion of the jaw bone.
Surgery to repair a cleft palate.
Braces and other orthodontic treatments are usually necessary to help correct misalignment of teeth.
Eye and Ear Treatment
An ophthalmologist (eye specialist) and otolaryngologist (ear, nose, and throat specialist) should monitor infants and children with Crouzon syndrome. These specialists can check for problems and provide corrective treatment as necessary.
This includes special education for children with a mental deficiency or mental retardation.
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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Craniosynostosis syndromes (FGFR-related).
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http://www.genetests.org. Accessed November 2004
Dalben Gda S, Costa B, Gomide MR.
Oral health status of children with syndromic craniosynostosis.
Oral Health Prev Dent
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