{"orpha":93311,"name":"Multiple epiphyseal dysplasia type 5","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BHMED","Bilateral hereditary micro-epiphyseal dysplasia","EDM5","MED5","Polyepiphyseal dysplasia type 5"],"definition":"Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93311/","orphanet_url":"https://www.orpha.net/en/disease/detail/93311","names":{"fr":{"name":"Dysplasie épiphysaire multiple type 5","synonyms":["Dysplasie polyépiphysaire type 5"],"definition":"La dysplasie épiphysaire multiple type 5 est une dysplasie épiphysaire multiple caractérisée par la survenue précoce d'une douleur et d'une raideur (impliquant les genoux et la hanche), une déformation progressive des extrémités et une ostéoarthrite précoce associée à une ossification retardée et irrégulière des épiphyses. Les caractéristiques spécifiques de la maladie incluent une taille normale et une incidence moindre des anomalies de la marche. Les radiographies révèlent des irrégularités épiphysaires et métaphysaires. La maladie suit un mode de transmission autosomique dominant."},"de":{"name":"Dysplasie, epiphysäre multiple, Typ 5","synonyms":["BHMED","Bilaterale hereditäre mikro-epiphysäre Dysplasie","Dysplasie, polyepiphysäre, Typ 5","EDM5","MED5"]},"es":{"name":"Displasia epifisaria múltiple tipo 5","synonyms":["BHMED","Displasia micro-epifisaria hereditaria bilateral","Displasia poliepifisaria tipo 5","EDM5","MED5"],"definition":"Es una displasia epifisaria múltiple caracterizada por un inicio temprano de dolor y rigidez (que afecta a rodillas y caderas), deformidad progresiva de las extremidades y osteoartritis precoz asociada a osificación irregular y tardía de las epífisis. Las características específicas de este tipo de displasia incluyen talla normal y menor incidencia de anomalías de la marcha. Las radiografías revelan irregularidades epifisarias y metafisarias. Sigue un patrón de transmisión autosómico dominante."},"it":{"name":"Displasia epifisaria multipla, tipo 5","synonyms":["Displasia poliepifisaria, tipo 5","EDM5","MED5"],"definition":"La displasia epifisaria multipla tipo 5 è una displasia epifisaria multipla caratterizzata da dolore e rigidità delle ginocchia e delle anche ad esordio precoce, deformità progressiva delle estremità e osteoartrite precoce, associata ad ossificazione tardiva e irregolare delle epifisi. I segni caratteristici della displasia epifisaria multipla tipo 5 comprendono la statura normale con un limitato interessamento della deambulazione. Le radiografie mostrano irregolarità delle epifisi e delle metafisi. La displasia epifisaria multipla tipo 5 ha una trasmissione autosomica dominante."},"nl":{"name":"Multipele epifysaire dysplasie type 5","synonyms":["BHMED","Bilaterale hereditaire micro-epifysaire dysplasie","EDM5","MED5","Meervoudige epifysaire dysplasie type 5","Polyepifysaire dysplasie type 5"],"definition":"Multipele epifysaire dysplasie type 5 is een multipele epifysaire dysplasie die gekarakteriseerd wordt door een vroege aanvang van pijn en stijfheid (met betrokkenheid van knie en heup), progressieve misvorming van de ledematen en vroegtijdige osteoartritis geassocieerd met vertraagde en onregelmatige ossificatie van epifysen. Kenmerken specifiek voor multipele epifysaire dysplasie type 5 zijn onder meer een normale gestalte en minder voorkomen van gangstoornissen. Radiografie toont epifysaire en metafysaire onregelmatigheden. Multipele epifysaire dysplasie type 5 volgt een autosomaal dominant overervingspatroon."},"pt":{"name":"Displasia epifisária múltipla, tipo 5"},"pl":{"name":"Dysplazja wielonasadowa typu 5","synonyms":["EDM5","MED5","BHMED"]},"cs":{"name":"Mnohočetná epifyzární dysplázie, typ 5","synonyms":["EDM5","MED5","Polyepifyzární dysplázie, typ 5"]},"uk":{"name":"Множинна епіфізарна дисплазія, тип 5","synonyms":["BHMED","Двостороння спадкова мікроепіфізарна дисплазія","EDM5","MED5","Поліепіфізарна дисплазія типу 5"],"definition":"Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission."},"zh":{"name":"多发性骨骺发育不良5型","synonyms":["双侧遗传性微骨骺发育不良"],"definition":"多发性骨骺发育不良5型是一种多发性骨骺发育不良，其特征是早期起病的疼痛和僵硬（涉及膝关节和髋关节），四肢进行性畸形，以及伴有骨骺延迟和不规则骨化的早发性骨关节炎。多发性骨骺发育不良5型的特征，包括正常身材，步态异常较少发生。放射学检查显示骨骺和干骺端不规则。多发性骨骺发育不良5型遵循常染色体显性遗传。"},"tr":{"name":"Çoklu epifizyal displazi tip 5","synonyms":["EDM5","MED5","BHMED","Poliepifizyal displazi tip 5","Bilateral kalıtsal mikro-epifizyal displazi"]}},"xrefs":[{"source":"OMIM","code":"607078","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.61","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"537678813"},{"source":"MONDO","code":"0011765","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535505","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846843","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9794","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":251,"name":"Multiple epiphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"MATN3","name":"matrilin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301302[PMID]","hgnc":"6909","ensembl":"ENSG00000132031","omim":"602109","loci":["2p24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"15948199[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15948199[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-14","source":"14994237[PMID]_24629099[PMID]_20301302[PMID]","terms":[{"hpo":"HP:0008828","label":"Delayed proximal femoral epiphyseal ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010631","label":"Abnormality of the epiphyses of the feet","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001384","label":"Abnormality of the hip joint","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003839","label":"Abnormality of upper limb epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030839","label":"Knee pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003502","label":"Mild short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003088","label":"Premature osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003170","label":"Abnormality of the acetabulum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030840","label":"Ankle pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003365","label":"Arthralgia of the hip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005743","label":"Avascular necrosis of the capital femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003184","label":"Decreased hip abduction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008419","label":"Intervertebral disc degeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008800","label":"Limited hip movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005877","label":"Multiple small vertebral fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004268","label":"Osteoarthritis of the small joints of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Very rare (<4-1%)","criteria":null}]}}