Ramon syndrome

Orpha code: 3019OMIM code: 266270

Definition

A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability. Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process.

Disease data
Classification

Malformation syndrome

Synonyms
Cherubism-gingival fibromatosis-intellectual disability syndrome
Cherubizm - zwłóknienie dziąseł - niepełnosprawność intelektualna
ORPHA code
3019
OMIM code
266270
ICD10 code
Q87.8
ICD11 code
LD2F.1Y

No additional description.

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