{"orpha":251,"name":"Multiple epiphyseal dysplasia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["EDM","MED","Polyepiphyseal dysplasia"],"definition":"A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251/","orphanet_url":"https://www.orpha.net/en/disease/detail/251","names":{"fr":{"name":"Dysplasie épiphysaire multiple","synonyms":["Dysplasie polyépiphysaire"],"definition":"Groupe de dysplasies osseuses primaires rares caractérisé par l'association d'anomalies épiphysaires des os longs provoquant des douleurs articulaires très tôt au cours de la vie, une ostéochondrite récurrente et une arthrose précoce. Ce groupe contient un ensemble hétérogène de maladies à expression variable. Les signes cliniques couramment rapportés sont une démarche dite « dandinante », une douleur à l'apparition de la pathologie ainsi qu'une petite taille modérée. Certaines formes sont principalement limitées aux épiphyses fémorales, tandis que plusieurs autres syndromes sont caractérisés par l'association de dysplasies épiphysaires multiples à d'autres manifestations cliniques telles qu'une myopie, une surdité et une dysmorphie faciale. Le diagnostic repose sur l'identification des caractéristiques radiologiques."},"de":{"name":"Dysplasie, epiphysäre multiple","synonyms":["Dysplasie, polyepiphysäre","EDM","MED"],"definition":"Eine seltene Gruppe von Krankheiten die den primären Knochendysplasien zugehörig sind. Sie sind gekennzeichnet durch eine Kombination von epiphysären Anomalien der langen Röhrenknochen, rezidivierenden Osteochondritiden und frühzeitiger Arthrose, die zu Gelenkschmerzen im frühen Lebensalter führen. Die Manifestationen dieser heterogenen Gruppe von Erkrankungen variieren. Häufige klinische Symptome sind ein watschelnder Gang, anfängliche Schmerzen und mäßiger Kleinwuchs. Einige Formen beschränken sich hauptsächlich auf die Oberschenkelepiphysen, während andere Syndrome durch eine Kombination von multiplen epiphysären Dysplasien mit anderen klinischen Manifestationen wie Myopie, Schwerhörigkeit und Gesichtsdysmorphien gekennzeichnet sind. Die Diagnose beruht auf der Identifizierung der radiologischen Merkmale."},"es":{"name":"Displasia epifisaria múltiple","synonyms":["Displasia poliepifisaria","EDM","MED"],"definition":"Es un grupo poco frecuente de displasias óseas primarias caracterizado por la asociación de anomalías epifisarias de los huesos largos que ocasionan dolor articular a una edad temprana, osteocondritis recidivante y artrosis precoz. Este grupo comprende un conjunto heterogéneo de enfermedades de expresión variable. Con frecuencia, los signos clínicos descritos incluyen marcha anserina y dolor al inicio, así como talla baja moderada. Algunas formas se limitan principalmente a las epífisis femorales, mientras que otros síndromes están caracterizados por la asociación de displasia epifisaria múltiple acompañada de otras manifestaciones clínicas tales como miopía, pérdida auditiva y dismorfia facial. El diagnóstico se basa en la identificación de las características radiológicas."},"it":{"name":"Displasia epifisaria multipla","synonyms":["Displasia poliepifisaria"]},"nl":{"name":"Multipele epifysaire dysplasie","synonyms":["EDM","MED","Polyepifysaire dysplasie"],"definition":"Een zeldzame groep van primaire botdysplasieën, gekarakteriseerd door de associatie van epifysaire anomalieën van pijpbeenderen die al vroeg in het leven leiden tot gewrichtspijn, terugkerende osteochondritis en vroege artropathie. Deze groep omvat een heterogene groep van ziekten met variabele expressie. Gangbaar gerapporteerde klinische kenmerken zijn onder meer waggelende gang en pijn bij aanvang, en matig kleine gestalte. Sommige vormen zijn voornamelijk beperkt tot de epifysen van dijbeen, terwijl verschillende andere syndromen gekenmerkt worden door de associatie van multipele epifysaire dysplasie met andere klinische manifestaties zoals myopie, doofheid en faciale dysmorfie. Diagnose is gebaseerd op identificatie van de radiologische kenmerken."},"pt":{"name":"Displasia epifisária múltipla","synonyms":["Displasia poliepifisária"],"definition":"As displasias epifisárias múltiplas (MED/EDMs) são caracterizadas por anomalias epifisárias que causam dores articulares precocemente na vida, osteocondrite e artrose precoce. As EDMs são um grupo heterogéneo de doenças com expressão variável classificadas como MED/EDMs 1-6."},"pl":{"name":"Dysplazja wielonasadowa","synonyms":["Dysplazja wielonasadowa","EDM","MED"]},"cs":{"name":"Mnohočetná epifyzární dysplázie","synonyms":["Polyepifyzární dysplázie"]},"uk":{"name":"Множинна епіфізарна дисплазія","synonyms":["EDM","MED","Поліепіфізарна дисплазія"],"definition":"A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features."},"zh":{"name":"多发性骨骺发育不良","synonyms":["骨骺发育不良"]},"tr":{"name":"Çoklu epifizyal displazi","synonyms":["EDM","MED","Poliepifizyal displazi"]}},"xrefs":[{"source":"ICD-11","code":"LD24.61","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2009123831"},{"source":"MONDO","code":"0016648","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16648","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0026760","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10756","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10028197","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":93313,"name":"OBSOLETE: Multiple epiphyseal dysplasia, unclassified type","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93429,"name":"Multiple epiphyseal dysplasia and pseudoachondroplasia","classifications":[147,156,199]}],"children":[{"orpha":166002,"name":"Multiple epiphyseal dysplasia due to collagen 9 anomaly","type":"Disease"},{"orpha":93308,"name":"Multiple epiphyseal dysplasia type 1","type":"Disease"},{"orpha":93307,"name":"Multiple epiphyseal dysplasia type 4","type":"Disease"},{"orpha":93311,"name":"Multiple epiphyseal dysplasia type 5","type":"Disease"},{"orpha":647676,"name":"Multiple epiphyseal dysplasia type 7","type":"Disease"},{"orpha":166016,"name":"Multiple epiphyseal dysplasia, Lowry type","type":"Disease"},{"orpha":166024,"name":"Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome","type":"Disease"},{"orpha":166032,"name":"Multiple epiphyseal dysplasia-miniepiphyses syndrome","type":"Disease"},{"orpha":166029,"name":"Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}