cherubism

Cherubism is a rare fibro‐osseous condition that primarily affects children and adolescents, leading to a progressive, bilateral enlargement of the jaw bones. This condition is associated with genetic variants in the SH3BP2 gene and follows an autosomal dominant pattern of inheritance. The changes in facial structure, particularly in the mandible and maxilla, are the hallmark of the disorder and can vary in severity among affected individuals. Because cherubism is very rare, affecting fewer than 1 in 1,000,000 people, families are encouraged to seek evaluation when characteristic changes are noted.

The clinical presentation of cherubism is defined by specific features related to the jaw region. A nearly universal finding is the central giant cell lesion of the jaw, which is present in all reported cases. Many individuals also experience noticeable jaw swelling, with this feature occurring in a high proportion of patients. Some children develop a rounded facial appearance, and enlargement of the submandibular lymph nodes is reported in a significant subset. In a smaller group, lower eyelid retraction can be observed. Not all individuals experience every feature, and the severity as well as the combination of findings can vary considerably. This variability underscores the importance of individualized monitoring and care as the condition evolves over time.

Cherubism is caused by pathogenic variants in the SH3BP2 gene. The function of this gene is integral to signaling pathways that regulate bone remodeling, and its disruption leads to the abnormal fibro-osseous proliferation seen in the jaw bones. The condition follows an autosomal dominant inheritance pattern, meaning that a single altered copy of SH3BP2 can be sufficient to cause cherubism. As a result, an affected individual has a 50% chance of passing the alteration on to his or her offspring. That even within the same family, the severity and specific manifestations of cherubism can differ, reflecting the variable expressivity that is common with many genetic conditions. Families are strongly encouraged to consider genetic counseling to understand these risks and the implications for family planning.

At present, there are no FDA-approved treatments specifically for cherubism, and management of the condition is primarily focused on supportive care and symptom management. Treatment is tailored to the individual and typically relies on a multidisciplinary team to address the various aspects of the disorder. Approaches may include regular monitoring of dental and facial structures and, when necessary, surgical interventions to manage severe cases. In clinical practice, supportive care often emphasizes pain management, dental care, and, in some situations, corrective surgery to improve function or appearance. Patients and families are advised to discuss all available options with their healthcare team to develop a treatment plan that best meets their specific needs. Genetic counseling is also recommended to provide guidance regarding the inheritance of this condition and support family planning decisions.

The long-term outlook for individuals with cherubism is generally favorable, especially as the condition is described as self-limiting and tends to stabilize as children reach late adolescence. However, the clinical course can vary, with some individuals experiencing significant jaw enlargement and facial changes during childhood that may require ongoing management, while others have milder manifestations. Outcomes described in medical literature continue to evolve as standards of care improve, and modern approaches to management have helped enhance quality of life. Given the variability in presentation and severity, families are encouraged to consult with specialists experienced in this condition, and genetic counseling can provide additional support and risk assessment for recurrence in families.

There are clinical trials underway exploring new treatment approaches for cherubism. Although only a few trials are active at present, ongoing research is aimed at understanding the molecular mechanisms of the condition better and developing targeted therapies. Individuals interested in potential clinical trial participation should consult ClinicalTrials.gov or speak with their care team about eligibility and the possibility of joining research studies.