Last update 08 May 2025

Ramon Syndrome

Basic Info

Synonyms
CHERUBISM, GINGIVAL FIBROMATOSIS, EPILEPSY, MENTAL DEFICIENCY, HYPERTRICHOSIS, AND STUNTED GROWTH, Cherubism-gingival fibromatosis-intellectual disability syndrome, Gingival fibromatosis combined with cherubism
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Introduction
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.

Analysis

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