National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

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
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Bone cyst
Bone cysts
0012062
Broad jaw
Broad lower face
Wide jaw
[ more ] 		0012802
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] 		0000293
30%-79% of people have these symptoms
Abnormality of dental morphology
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth
[ more ] 		0006482
Oligodontia
Failure of development of more than six teeth
0000677
5%-29% of people have these symptoms
Abnormality of the voice
Voice abnormality
0001608
Feeding difficulties in infancy 0008872
Obstructive sleep apnea 0002870
Optic atrophy 0000648
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ] 		0000529
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Upper airway obstruction 0002781
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Childhood onset
Symptoms begin in childhood
0011463
Constriction of peripheral visual field
Limited peripheral vision
0001133
Lower eyelid retraction 0030802
Macular scar 0200056
Marcus Gunn pupil 0200057
Optic neuropathy
Damaged optic nerve
0001138
Reduced visual acuity
Decreased clarity of vision
0007663
Round face
Circular face
Round facial appearance
Round facial shape
[ more ] 		0000311
Striae distensae
Stretch marks
0001065
Showing of 22 |
Last updated: 7/1/2020
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
Cherubism is inherited in an autosomal dominant manner.[1][2][3][4][5][6][7] This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. 

In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. The proportion of cases of cherubism caused by de novo mutation is unknown since variable expressivity and reduced penetrance are observed in this condition.[1] 

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.
Last updated: 3/12/2017

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes Noonan-like syndrome, hyperparathyroidism-jaw tumor syndrome, fibrous dysplasia of bone (see these terms), brown tumor of hyperparathyroidism, and central giant-cell granuloma.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Cherubism. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cherubism. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new 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. See answer


  1. Baskin B, Bowdin S, Ray PN. Cherubism. GeneReviews. September 1, 2011; https://www.ncbi.nlm.nih.gov/books/NBK1137/.
  2. Baskin B. Cherubism. Orphanet. November 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184.
  3. Friedrich RE, Scheuer HA, Zustin J, Grob T. Cherubism: A Case Report with Surgical Intervention. Anticancer Res. June 2016; 36(6):3109-15. https://www.ncbi.nlm.nih.gov/pubmed/27272835.
  4. Kadlub N, Sessiecq Q, Dainese L, Joly A, Lehalle D, Marlin S, Badoual C, Galmiche L, Majoufre-Lefebvre C, Berdal A, Deckert M, Vazquez MP, Descroix V, Coudert AE, Picard A. Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism. Hum Pathol. Dec 2016; 58:62-71. https://www.ncbi.nlm.nih.gov/pubmed/27498064.
  5. Shokri A, Khavid A. Cherubism: An Unusual Study With Long-Term Follow-Up. J Craniofac Surg. Juky 2016; 27(5):e511-2. https://www.ncbi.nlm.nih.gov/pubmed/27315317.
  6. Cariati P, Monsalve Iglesias F, Fernández Solís J, Valencia Laseca A, Martinez Lara I. Cherubism. A case report. Reumatol Clin. July 2016; https://www.ncbi.nlm.nih.gov/pubmed/27427211.
  7. Cherubism. Genetics Home Reference. April 2007; https://ghr.nlm.nih.gov/condition/cherubism.