The following information may help to address your question:
What is cherubism?
Cherubism is a rare disorder characterized by progressive, painless, bilateral swelling of the jaw during childhood. This fibro-osseous (bone structure) condition is self-limiting, with symptoms typically resolving in adulthood.
[1][2][3][4][5][6] Diagnosis is based on a combination of clinical signs,
family history, radiographic findings (panoramic
x-rays,
CT scan),
biopsy, and
genetic testing.
[1][2][4][6] Cherubism is
inherited in an
autosomal dominant fashion and is caused by
mutations in the
SH3BP2 gene.
[1][2][3][4][5][6] Treatment tends to be conservative (wait-and-see), with surgery reserved for the most severe cases.
[3][4][5][6]
Last updated: 3/11/2017
What are the signs and symptoms of cherubism?
Cherubism is characterized by abnormal bone
tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development.
[1][2][3][4][5][6] In some people the condition is very mild and barely noticeable. Other cases are severe enough to cause problems with vision, breathing, speech, and swallowing.
[1][4][6] Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone, with complete resolution by the third or fourth decade.
[3][4]
Last updated: 3/12/2017
How does one get cherubism? What causes cherubism?
Cherubism is caused by changes (
mutations) in the SH3-domain binding
protein 2 (
SH3BP2) gene on
chromosome 4.
[1][2][3][4][5][6][7] The protein encoded by
SH3BP2 is important for bone metabolism and remodeling.
[6][7] Researchers believe that
SH3BP2 mutations lead to an overly active version of the protein that alters critical signaling pathways in
cells associated with the maintenance of bone tissue and in certain
immune system cells. The overactive protein may cause inflammation in the bones of the jaw, triggering the production of too many
osteoclasts (the cells that repair bone). Too many of these cells contribute to the abnormal breakdown of bone tissue in the upper and lower jaw. A combination of bone loss and inflammation likely leads to the cyst-like growths seen in cherubism.
[7]
About 80% of people with cherubism have a mutation in the
SH3BP2 gene. The cause of the condition in the remaining 20% of cases remains unknown.
[1][2][7]
Last updated: 3/12/2017
Can I be tested to see if I am a carrier?
Testing is available for
SH3BP2, the gene that has been identified in about 80 percent of people with cherubism.
[1][2][7] Even if a person tests negative for disease-causing mutations in the
SH3BP2 gene, a genetic cause is still likely. At this time, the other gene(s) that may be associated with cherubism have not been identified; therefore, genetic testing is unavailable.
Last updated: 3/12/2017
Do my future children run a strong risk?
To find out your specific chances of having a child with cherubism, we recommend speaking with a genetics professional. Such a professional can review your medical and family history to determine your specific chances. Below we provide a list of online resources that can assist you in locating a genetics professional. Although we cannot provide specific risks, we can say that, in general, cherubism is inherited in an autosomal dominant fashion, which means that having a change (mutation) in only one coy of the responsible gene is each cell is enough the cause features of the condition.
To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can learn more about genetic consultations from Genetics Home Reference.
Last updated: 3/12/2017
If I find that I am not a carrier for cherubism can I still have children with the disease?
Yes. Again, only 80 percent of people with cherubism have an identifiable mutation in the
SH3BP2 gene. In the remaining cases, the cause is likely genetic, but unknown. Individuals who do not have an identifiable genetic cause can still have children with cherubism.
[1][2][7]
Last updated: 3/12/2017
There is no family history of cherubism on my mother's and father's side. How can I have cherubism?
There may be a number of reasons that might explain your family history. One possible explanation is that there are members in your family who have cherubism, but who were never diagnosed because their signs and symptoms were very mild. Alternatively, you could be the first member in your family with cherubism because a mutation occurred in your mother's egg or your father's sperm or in the fertilized egg; this phenomenon is called a
de novo mutation.
[1]
Last updated: 3/12/2017
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please
contact us.
Warm regards,
GARD Information Specialist
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