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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • CRBM
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Your Question

I have cherubism. I was diagnosed at age 3 and had the tumor surgically removed at age 13. Then I had implants placed for permanent teeth at age 20. Today I live normally. My main concern and reason for contact is: I'd like to know more about the cause of cherubism. How or why did I get it? There is no history in either of my families of cherubism. What are the signs and symptoms of cherubism? Do my future children run a strong risk? Can I be tested to see if I am a carrier? If I find that I am not a carrier can they still turn up with the disease? Is there prenatal testing available for cherubism. As you can see, I am mostly concerned for the future of my family. I do not have kids yet, but do plan to.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is cherubism?

Cherubism is a rare disorder characterized by abnormal bone tissue in the lower part of the face. The enlarged bone is replaced with painless, cyst-like growths that give the cheeks a swollen, rounded appearance and frequently interfere with normal tooth development. The condition may be mild or severe. People with the severe form may have problems with vision, breathing, speech, and swallowing. Many adults with cherubism have a normal facial appearance. Most people with cherubism do not any other signs and symptoms. The condition is inherited in an autosomal dominant fashion and is caused by mutations in the SH3BP2 gene., in most cases.[1]
Last updated: 8/17/2010

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. In some people the condition is very mild and barely noticeable, while in other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance.[1]
Last updated: 1/11/2011

 How does one get cherubism? What causes cherubism?

Genetic changes (mutations) in the SH3BP2 gene cause cherubism. About 80 percent of people with cherubism have a mutation in the SH3BP2 gene. In most of the remaining cases, the genetic cause of the condition is unknown.[1]
Last updated: 8/17/2010

Can I be tested to see if I am a carrier?

Yes. Testing is available for SH3BP2, the gene that has been identified in about 80 percent of people with cherubism.[1] 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: 8/17/2010

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 an individual needs to only inherit one mutated copy of the SH3BP2 gene, for example, to have the cherubism.

The following online resources can also help you find a genetics professional in your community:

  * GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
http://www.geneclinics.org/

  * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
http://www.nsgc.org/resourcelink.asp

  * Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
http://www.kumc.edu/gec/prof/genecntr.html

Last updated: 8/17/2010

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 genetic, but unknown. Individuals who do not have an identifiable genetic cause can still have children with cherubism.[1]
Last updated: 8/17/2010

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.[2]
Last updated: 8/17/2010

References