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Fibrous dysplasia of jaw(CRBM)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Cherubism; CRBM
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
not inherited
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: Fibrous dysplasia of jaw (76098004); Cherubism (76098004); Familial fibrous dysplasia of jaw (76098004)
Gene (location): SH3BP2 (4p16.3)
OMIM®: 118400
Orphanet: ORPHA184

Disease characteristics

Excerpted from the GeneReview: Cherubism
Cherubism is characterized by progressive, painless, bilateral enlargement of the mandible and/or maxilla resulting from replacement of bone with multilocular cysts composed of fibrotic stromal cells and osteoclast-like cells. The enlargement is usually symmetric in nature. The phenotype ranges from no clinical manifestations to severe mandibular and maxillary overgrowth with respiratory, vision, speech, and swallowing problems. Onset is typically between ages two and five years. Other bones are usually not affected and the affected person is otherwise normal. The jaw lesions progress slowly until puberty when they stabilize and then regress. Dental abnormalities include congenitally missing teeth, premature exfoliation of the deciduous teeth, and displacement of permanent teeth by the jaw lesions. By age 30 years, facial abnormalities are no longer apparent; residual jaw deformity is rare.  [from GeneReviews]
Berivan Baskin  |  Sarah Bowdin  |  Peter N Ray   view full author information

Additional description

From GHR
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).

Clinical features

Macular scar
MedGen UID:
Concept ID:
Scar tissue in the macula.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFibrous dysplasia of jaw
Follow this link to review classifications for Fibrous dysplasia of jaw in Orphanet.

Recent clinical studies


Dahlgren SE, Lind PO, Lindbom A, Mårtensson G
Acta Otolaryngol 1969 Sep;68(3):257-70. PMID: 4907321


Gupta N, Gupta R, Bakshi J, Rajwanshi A
Diagn Cytopathol 2009 Dec;37(12):920-2. doi: 10.1002/dc.21139. PMID: 19582807
Dahlgren SE, Lind PO, Lindbom A, Mårtensson G
Acta Otolaryngol 1969 Sep;68(3):257-70. PMID: 4907321


Dahlgren SE, Lind PO, Lindbom A, Mårtensson G
Acta Otolaryngol 1969 Sep;68(3):257-70. PMID: 4907321

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