Ramon Syndrome

Alternative Names

  • Cherubism, Gingival Fibromatosis, Epilepsy, Mental Deficiency, Hypertrichosis, and Stunted Growth
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

266270

Mode of Inheritance

Autosomal recessive

Gene Map Locus

20q13.12

Description

Ramon Syndrome is 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. [From Orphanet]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
266270.1.1LebanonFemaleYesYes Gingival bleeding; Intellectual disabil...NM_133171.5:c.1817T>GHomozygousAutosomal, RecessiveMehawej et al. 2018
266270.1.2LebanonMaleYesYes Gingival bleeding; Intellectual disabil...NM_133171.5:c.1817T>GHomozygousAutosomal, RecessiveMehawej et al. 2018 Sibling of 266270.1....
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