{"orpha":166032,"name":"Multiple epiphyseal dysplasia-miniepiphyses syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166032/","orphanet_url":"https://www.orpha.net/en/disease/detail/166032","names":{"fr":{"name":"Syndrome de dysplasie épiphysaire multiple-miniépiphyses","definition":"Une dysplasie osseuse primaire rare caractérisée par des centres d'ossification secondaire étonnamment petits (mini-épiphyses) dans toutes ou seulement certaines articulations, conduisant à une dysplasie osseuse sévère des têtes fémorales proximales. Une petite taille, une lordose lombaire accrue, des genu varum et une hyperlaxité articulaire généralisée ont aussi été rapportés."},"de":{"name":"Multiple epiphysäre Dysplasie-Miniepiphysen-Syndrom","synonyms":["Syndrom der multiplen epiphysären Dysplasie mit Miniepiphysen"],"definition":"Multiple epiphysäre Dysplasie mit Miniepiphysen ist eine seltene primäre Knochendysplasie, die durch auffallend kleine sekundäre Verknöcherungszentren (Miniepiphysen) in allen oder nur einigen Gelenken gekennzeichnet ist, was zu einer schweren Knochendysplasie der proximalen Femurköpfe führt. Kleinwuchs, erhöhte Lendenlordose, Genua vara und generalisierte Gelenklaxität können assoziiert sein."},"es":{"name":"Síndrome de displasia epifisaria múltiple-miniepífisis","definition":"Es una displasia ósea primaria poco frecuente caracterizada por centros de osificación secundaria extremadamente pequeños (mini-epífisis) en todas o en algunas articulaciones, dando lugar a una displasia ósea grave de las cabezas femorales proximales. También se han descrito talla baja, aumento de la lordosis lumbar, genu vara y laxitud articular generalizada."},"it":{"name":"Sindrome displasia epifisaria multipla-miniepifisi","definition":"La displasia epifisaria multipla con miniepifisi è una displasia scheletrica primitiva rara, caratterizzata dalla presenza di centri di ossificazione secondari notevolmente piccoli (miniepifisi) a livello di alcune o in tutte le articolazioni, che esitano in una grave displasia scheletrica della porzione prossimale della testa del femore. Possono associarsi bassa statura, iperlordosi lombare, ginocchia vare e lassità articolare generalizzata."},"nl":{"name":"Multipele epifysaire dysplasie - mini-epifysen-syndroom","synonyms":["Meervoudige epifysaire dysplasie - mini-epifysen-syndroom"],"definition":"Multipele epifysaire dysplasie, met mini-epifysen is een zeldzame primaire botdysplasie die gekarakteriseerd wordt door opvallend kleine secundaire ossificatiekernen (mini-epifysen) in alle of slechts enkele gewrichten, en leidt tot ernstige botdysplasie van de proximale femurkoppen. Een kleine gestalte, toename van lumbale lordose, genua vara (O-benen) en gegeneraliseerde gewrichtslaxiteit werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de displasia epifisária múltipla-miniepifises"},"pl":{"name":"Zespół dysplazji wielonasadowej i mininasad"},"cs":{"name":"Mnohočetná epifyzární dysplázie, s miniepifýzou"},"uk":{"name":"Синдром множинної епіфізарної дисплазії - мініепіфізів","definition":"Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported."},"zh":{"name":"多发性骨骺发育不良伴小骨骺","definition":"多发性骨骺发育不良伴小骨骺是一种罕见的原发性骨发育不良疾病，其特征是所有或部分关节的次级骨化中心非常小(小骨骺)，导致股骨头近端严重骨发育不良。身材矮小、腰椎前凸度增大、膝内翻和全身性关节松弛也有报道。"},"tr":{"name":"Miniepifizler ile seyreden çoklu epifiz displazisi"}},"xrefs":[{"source":"OMIM","code":"609325","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":"1929277234"},{"source":"MONDO","code":"0012254","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563735","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5924992","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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"15523498[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15523498[PMID]"}],"phenotypes":null}