Ramon syndrome

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Synonyms: Cherubism-gingival fibromatosis-intellectual disability syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Ramon syndrome?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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