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MIM.118400 4p16.3

Thursday 18 May 2006

Cherubism is, like Caffey disease, a benign self-limited condition. The disorder has also been called familial benign giant-cell tumor of the jaw, familial multilocular cystic disease of the jaw.


- familial cherubism
- non-familial cherubism


- swelling of the lower face

  • begins around the third or fourth year of life and progresses until the late teens.

- round face due to facial swelling
- broad cheeks due to facial swelling
- symmetric, hard, painless, swelling of the jaw region
- maxillary enlargement
- mandibular enlargement
- enlarged submandibular lymph nodes
- proptosis
- upward displacement of the globes
- lower eyelid retraction
- orbital mass
- optic neuropathy
- Marcus-Gunn pupil
- decreased visual acuity
- depressed visual field
- macular striae
- macular scarring
- oligodontia
- agenesis of teeth
- displaced teeth
- loss of bone and replacement by fibrous tissue restricted to jaw
- multilocular radiolucencies in the jaw bones

- X-ray: multilocular cystic changes in the mandible and maxilla and often in the anterior ends of the ribs.

- Histology: multiple osteoclast-like cells in a fibrous and cellular stroma

Differential diagnosis

- Caffey disease (MIM.114000)
- different x-ray appearance
- more widespread involvement of the skeleton, e.g.


- Cherubism is caused by mutations in the SH3BP2 gene (MIM.602104) at 4p16.3