{"orpha":3019,"name":"Ramon syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cherubism-gingival fibromatosis-intellectual disability syndrome"],"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3019/","orphanet_url":"https://www.orpha.net/en/disease/detail/3019","names":{"fr":{"name":"Syndrome de Ramon","synonyms":["Syndrome de chérubinisme-fibromatose gingivale-déficience intellectuelle"],"definition":"Syndrome de dysplasie osseuse primaire rare, d'origine génétique, caractérisé par une tuméfaction bilatérale et indolore du visage, allant de la mandibule au bord inférieur de l'orbite (chérubisme), une épilepsie, une fibromatose gingivale (pouvant dissimuler les dents) et une déficience intellectuelle. Parmi les autres signes inconstants associés figurent une hypertrichose, un retard de croissance, une arthrite rhumatoïde juvénile et des anomalies oculaires (rétinopathie pigmentaire, pâleur papillaire, anomalie d'Axenfeld). Les clichés radiologiques montrent généralement une radiotransparence multifocale bilatérale au niveau du corps, de l'angle et de la branche de la mandibule et du processus coronoïde."},"de":{"name":"Ramon-Syndrom","synonyms":["Cherubinismus mit gingivaler Fibromatose und Intelligenzminderung"],"definition":"Eine syndromale Form der primären Knochendysplasie, die gekennzeichnet ist durch beidseitige, schmerzlose Schwellungen des Gesichts, die sich vom Unterkiefer bis zu den unteren Orbitalrändern erstrecken (Cherubismus), Epilepsie, Gingivafibromatose und Intelligenzminderung. Weitere variable Merkmale sind Hypertrichose, Kleinwuchs, juvenile rheumatoide Arthritis und die Entwicklung von Augenanomalien (z. B. Pigmentretinopathie, Blässe des Sehnervenkopfes, Axenfeld-Anomalie). Röntgenbilder zeigen typischerweise eine bilaterale multifokale Radioluzenz, die den Körper, den Winkel und den Ramus des Unterkiefers sowie den Processus coronoideus betrifft."},"es":{"name":"Síndrome de Ramon","synonyms":["Síndrome de querubismo-fibromatosis gingival-discapacidad intelectual"],"definition":"Es una displasia ósea primaria, genética y poco frecuente, caracterizada por una inflamación indolora bilateral de la cara que se extiende desde la mandíbula hasta los márgenes orbitarios inferiores (querubismo), epilepsia, fibromatosis gingival (posiblemente enmascarando los dientes) y discapacidad intelectual. Otros hallazgos variables asociados incluyen hipertricosis, retraso del crecimiento, artritis reumatoide juvenil y desarrollo de anomalías oculares (p. ej. retinopatía pigmentaria, palidez del disco óptico, anomalía de Axenfeld). Típicamente las imágenes radiológicas muestran radiolucencia multifocal bilateral con afectación del cuerpo, ángulo y rama mandibular y apófisis coronoide."},"it":{"name":"Sindrome di Ramon","synonyms":["Sindrome cherubinismo-fibromatosi gengivale-disabilità intellettiva"],"definition":"È una displasia scheletrica primitiva genetica rara, caratterizzata da tumefazione indolore bilaterale del volto, che si estende dalla mandibola ai margini orbitali inferiori (cherubismo), epilessia, fibromatosi gengivale (i denti possono sembrare nascosti) e disabilità intellettiva. Altri segni clinici variabili sono l'ipertricosi, l'arresto della crescita, l'artrite reumatoide giovanile e le anomalie oculari (ad es. retinopatia pigmentata, pallore del disco ottico, anomalia di Axenfeld). Di solito le radiografie evidenziano radiolucenza multifocale bilaterale che interessa il corpo, l'angolo e il ramo della mandibola e il processo coronoideo."},"nl":{"name":"Syndroom van Ramon","synonyms":["Cherubisme - gingivale fibromatose - intellectuele achterstand-syndroom"],"definition":"Een zeldzame, genetische, syndromale primaire botdysplasie die gekarakteriseerd wordt door bilaterale, pijnloze zwelling van het gelaat van de onderkaak tot de onderste orbitale randen (cherubisme), epilepsie, gingivale fibromatose (die mogelijk tanden verdonkert), en intellectuele achterstand. Andere geassocieerde variabele kenmerken zijn onder meer hypertrichose, belemmerde groei, juveniele reumatoïde artritis, en ontwikkeling van oculaire afwijkingen (e.g. pigmentretinopathie, bleekheid van de optische papil, anomalie van Axenfeld). Radiologische beeldvorming toont doorgaans bilaterale multifocale radiolucentie met betrokkenheid van lichaam, hoek en ramus (tak) van de onderkaak en de processus coronoideus."},"pt":{"name":"Síndrome Ramon","synonyms":["Síndrome de querubismo-fibromatose gengival-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Zespół Ramona","synonyms":["Cherubizm - zwłóknienie dziąseł - niepełnosprawność intelektualna"]},"cs":{"name":"Ramonův syndrom","synonyms":["Syndrom zahrnující cherubismus, fibromatózu dásní a mentální retardaci"]},"uk":{"name":"Синдром Рамона","synonyms":["Синдром херувізму - фіброматозу ясен - інтелектуальної недостатності"],"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."},"zh":{"name":"Ramon 综合征","synonyms":["巨颌症-牙龈纤维瘤病-智力障碍综合征"]},"tr":{"name":"Ramon sendromu","synonyms":["Çerubizm-gingival fibromatozis-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"266270","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"122538435"},{"source":"MONDO","code":"0009954","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535285","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796133","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7523","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"ELMO2","name":"engulfment and cell motility 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29095483[PMID]","hgnc":"17233","ensembl":"ENSG00000062598","omim":"606421","loci":["20q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"11746043[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11746043[PMID]_6829604[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000169","label":"Gingival fibromatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000593","label":"Abnormal anterior chamber morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Occasional (29-5%)","criteria":null}]}}