Cherubism (CRBM)

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Disease Ontology 12 DOID:1856 OMIM 56 118400 KEGG 36 H00497 MeSH 43 D002636 NCIt 49 C84630 SNOMED-CT 67 53432004 76098004 ICD10 32 M27.8

MESH via Orphanet 44 D002636 ICD10 via Orphanet 33 K10.8 UMLS via Orphanet 72 C0008029 Orphanet 58 ORPHA184 MedGen 41 C0008029 SNOMED-CT via HPO 68 112643007 1151008 13164000 18265008 18410006 201066002 201067006 203465002 203467005 232122003 247015002 263681008 267628004 422775003 47212006 66954000 700264006 76976005 78275009 82108004 more UMLS 71 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 giant cell reparative granuloma and giant cell tumor. 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 Signaling by Wnt. Affiliated tissues include bone, lymph node and testes, and related phenotypes are full cheeks and bone cyst

Disease Ontology : ¹² A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has material basis in heterozygous mutation in SH3BP2 on chromosome 4p16.3.

NIH Rare Diseases : ⁵² 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.

OMIM : ⁵⁶ Cherubism is characterized by a loss of bone, restricted to the jaws, and by the replacement of this bone with fibrous tissues, leading to facial swelling. Involvement of the infraorbital rim and the orbital floor leads to the upward tilting of the eyeballs and consequent exposure of the inferior part of the sclerae, giving a 'cherubic' appearance. Submandibular lymph node enlargement is often reported. Functional impairment includes mastication and speech problems, tooth alterations, and loss of normal vision. Onset of the disease is usually between 14 months and 4 years of age. The disease progresses through puberty, then stabilizes, and in some cases regresses without treatment (summary by Tiziani et al., 1999). (118400)

KEGG : ³⁶ 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 : ⁷³ 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 : ⁷⁴ Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name... more...

GeneReviews: NBK1137

Clinical features from OMIM:

118400

Search NIH Clinical Center for Cherubism

Search GEO for disease gene expression data for Cherubism.