Your QuestionI 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.
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Questions on this page
- What is cherubism?
- What are the signs and symptoms of cherubism?
- How does one get cherubism? What causes cherubism?
- Can I be tested to see if I am a carrier?
- Do my future children run a strong risk?
- If I find that I am not a carrier for cherubism can I still have children with the disease?
- There is no family history of cherubism on my mother's and father's side. How can I have cherubism?
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.
* 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.
* 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.
- Cherubism. Genetics Home Reference. April 2007; http://ghr.nlm.nih.gov/condition=cherubism. Accessed 4/5/2010.
- Baskin B, Teebi A, Ray PN. Cherubism. GeneReviews. February 26, 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cherubism. Accessed 8/17/2010.