Ramon syndrome

Orpha code: 3019OMIM code: 266270

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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