Cherubism (CRBM)

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Disease Ontology 12 DOID:1856 OMIM 57 118400 KEGG 37 H00497 MeSH 44 D002636 NCIt 50 C84630 SNOMED-CT 68 53432004 76098004 ICD10 33 M27.8

MESH via Orphanet 45 D002636 ICD10 via Orphanet 34 K10.8 UMLS via Orphanet 73 C0008029 Orphanet 59 ORPHA184 MedGen 42 C0008029 UMLS 72 C0008029

Genetics Home Reference : ²⁵ Cherubism is a disorder 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 so mild that it may not be noticeable, while 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. 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, cherubism can occur with Ramon syndrome, which also involves short stature, intellectual disability, and overgrowth of the gums (gingival fibrosis). Additionally, cherubism has been reported in rare cases of Noonan syndrome (a developmental disorder characterized by unusual facial characteristics, short stature, and heart defects) and fragile X syndrome (a condition primarily affecting males that causes learning disabilities and cognitive impairment).

MalaCards based summary : Cherubism, also known as crbm, is related to bone resorption disease and osteopetrosis. An important gene associated with Cherubism is SH3BP2 (SH3 Domain Binding Protein 2), and among its related pathways/superpathways are Natural killer cell mediated cytotoxicity and Cytokine Signaling in Immune system. Affiliated tissues include bone, testes and heart, and related phenotypes are full cheeks and bone cyst

NIH Rare Diseases : ⁵³ 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. Diagnosis is based on a combination of clinical signs, family history, radiographic findings (panoramic x-rays, CT scan), biopsy, and genetic testing. Cherubism is inherited in an autosomal dominant fashion and is caused by mutations in the SH3BP2 gene. Treatment tends to be conservative (wait-and-see), with surgery reserved for the most severe cases.

KEGG : ³⁷ Cherubism is an uncommon disorder of the jaws in childhood. The maxillary bones are replaced with pseudocystic osteolytic lesions, affecting dentition. Mutated SH3BP2, which can enhance BCR signaling, is involved in the pathogenesis of cherubism.

UniProtKB/Swiss-Prot : ⁷⁴ Cherubism: An autosomal dominant syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling.

Wikipedia : ⁷⁵ Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name... more...

More information from OMIM: 118400

GeneReviews: NBK1137

Clinical features from OMIM:

118400

Search NIH Clinical Center for Cherubism

Search GEO for disease gene expression data for Cherubism.