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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism. In most of the remaining cases, the genetic cause of the condition is unknown.</p><p>The SH3BP2 gene provides instructions for making a protein that plays a role in relaying chemical signals within cells. the SH3BP2 protein is particularly important for the function of cells involved in the replacement of old bone tissue with new bone (bone remodeling) and certain immune system cells.</p><p>Mutations in the SH3BP2 gene lead to production of an abnormal protein that does not get broken down when it is no longer needed. Too much SH3BP2 protein likely increases signaling in certain cells, causing an immune reaction (inflammation) in the jaw bones and also triggering the production of osteoclasts, which are cells that break down bone tissue during bone remodeling. An excess of these bone-destroying cells contributes to the destruction of bone in the upper and lower jaws. A combination of bone loss and inflammation likely underlies the cyst-like growths characteristic of cherubism.</p><p>When cyst-like growths in the jaw, like those in cherubism, occur as a feature of a genetic syndrome, they are caused by the genetic alteration involved in the syndrome rather than by an SH3BP2 alteration.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/cherubism/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Cherubism?"},{"bodyHtml":"<p>Most people with cherubism have few, if any, signs and symptoms affecting other parts of the body. Rarely, however, this condition occurs as part of another genetic disorder. For example, abnormal jaw growth, like that in cherubism, can occur in Ramon syndrome, which also involves short stature, intellectual disability, and overgrowth of the gums (gingival fibrosis). Additionally, cherubism-like growths have been reported in rare cases of Noonan syndrome (a developmental disorder characterized by unusual facial characteristics, short stature, and heart defects), fragile X syndrome (a condition primarily affecting males that causes learning disabilities and cognitive impairment), and neurofibromatosis type 1 (a condition primarily characterized by multiple skin tumors).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/cherubism\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"cherubism","sourceDocuments":[{"name":"Cherubism","reviewed":"2020-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:13.339212+00:00","label":"Causes","pageSha256":"821573831774991708839932f2fa13f69b2fda79326f88c17be6b3108bbf7295","sourceUrl":"https://medlineplus.gov/genetics/condition/cherubism/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cherubism"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Cherubism"},"schemaVersion":1}