{"orpha":166029,"name":"Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166029/","orphanet_url":"https://www.orpha.net/en/disease/detail/166029","names":{"fr":{"name":"Syndrome de dysplasie épiphysaire multiple-dysplasie fémorale sévère","definition":"Une dysplasie osseuse primaire rare, caractérisée par une dysplasie fémorale proximale sévère apparaissant précocement, associée à une absence presque complète des centres d'ossification secondaires, et un développement anormal des têtes fémorales (petites et larges avec des métaphyses irrégulières). Elle est associée à une anomalie de la marche, une taille légèrement diminuée, une arthralgie, une raideur articulaire avec une limitation de la mobilité de la hanche et une acétabula irrégulière, ainsi qu'une douleur au niveau de la hanche et des genoux. Une coxa vara et de légères modifications vertébrales sont aussi associées."},"de":{"name":"Multiple epiphysäre Dysplasie-schwere proximale Femur-Dysplasie-Syndrom","synonyms":["Syndrom der multiplen epiphysären Dysplasie mit Dysplasie der proximalen Oberschenkelknochen"],"definition":"Eine seltene primäre Knochendysplasie, die durch eine schwere, früh einsetzende Dysplasie der proximalen Femurknochen mit fast vollständigem Fehlen der sekundären Verknöcherungszentren und abnormaler Entwicklung der Femurhälse (kurz und breit mit unregelmäßigen Metaphysen) gekennzeichnet ist. Es ist assoziiert mit Ganganomalien, leichter Kleinwüchsigkeit, Arthralgie, Gelenksteifigkeit mit eingeschränkter Beweglichkeit der Hüften und unregelmäßigen Acetabulum sowie Hüft- und Knieschmerzen. Coxa vara und leichte Wirbelsäulenveränderungen sind ebenfalls assoziiert."},"es":{"name":"Síndrome de displasia epifisaria múltiple-displasia femoral proximal grave","definition":"La displasia epifisaria múltiple con displasia grave femoral proximal, es una displasia ósea primaria poco frecuente caracterizada por displasia severa del fémur proximal de inicio temprano, con ausencia casi completa de núcleos de osificación secundarios y un desarrollo anómalo del cuello femoral (corto y ancho con metáfisis irregulares). Se asocia con anomalías de la marcha, talla baja leve, artralgia, rigidez articular con movilidad limitada de las caderas y acetábulo irregular, y dolor de cadera y rodilla. También están asociados coxa vara y leves cambios espinales"},"it":{"name":"Sindrome displasia epifisaria multipla-displasia grave della porzione prossimale del femore","definition":"La displasia epifisaria multipla con displasia femorale prossimale grave è una displasia scheletrica primitiva rara, caratterizzata da grave displasia dei femori prossimali ad esordio precoce, associata all'assenza pressoché completa dei centri di ossificazione, secondaria ad un anomalo sviluppo dei colli dei femori (che appaiono corti e allargati, con metafisi irregolari). Si associa ad anomalie dell'andatura, statura moderatamente bassa, artralgia, rigidità delle articolazioni con limitata mobilità delle anche e acetaboli irregolari, dolore alle anche e alle ginocchia. I pazienti presentano anche coxa vara e lievi alterazioni spinali."},"nl":{"name":"Multipele epifysaire dysplasie - ernstige proximale femorale dysplasie-syndroom","definition":"Multipele epifysaire dysplasie, met ernstige proximale femorale dysplasie is een zeldzame primaire botdysplasie die gekarakteriseerd wordt door ernstige, vroeg aanvangende dysplasie van de proximale dijbeenderen, met nagenoeg volledige afwezigheid van de secundaire ossificatiecentra en abnormale ontwikkeling van de femurhals (kort en breed met onregelmatige metafysen). Het is geassocieerd met gangstoornis, milde kleine gestalte, artralgie, stijfheid van gewrichten met beperkte mobiliteit van de heupen en onregelmatige acetabula (heupkommen), en heup- en kniepijn. Coxa vara en milde veranderingen aan het ruggenmerg zijn ook geassocieerd."},"pt":{"name":"Síndrome de displasia epifisária múltipla-displasia femoral proximal grave"},"pl":{"name":"Dysplazja wielonasadowa z ciężką proksymalną dysplazją kości udowej","synonyms":["Zespół dysplazja wielonasadowa – ciężka dysplazja bliższego odcinka kości udowej"]},"cs":{"name":"Mnohočetná epifyzární dysplázie s těžkou proximální dysplázií femuru"},"uk":{"name":"Синдром множинної епіфізарної дисплазії-тяжкої дисплазії проксимального відділу стегнової кістки","definition":"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated."},"zh":{"name":"多发性骨骺发育不良伴重度股骨近端发育不良","definition":"多发性骨骺发育不良伴重度股骨近端发育不良是一种罕见的原发性骨发育不良，其特征是股骨近端为早发性重度发育不良，且次级骨化中心几乎完全缺失，以及股骨颈发育异常(短而宽，且干骺端不规则)。该病与步态异常，轻度矮小，关节痛，关节强直伴髋关节活动受限，髋臼不规则，以及髋关节和膝盖疼痛相关。髋内翻和轻度脊柱改变也与该疾病相关。"},"tr":{"name":"Ağır proksimal femoral displazi ile seyreden çoklu epifizyel displazi"}},"xrefs":[{"source":"OMIM","code":"609324","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":"1488207821"},{"source":"MONDO","code":"0012253","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563736","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5924993","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"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"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}