{"orpha":3408,"name":"Upington disease","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Hip dysplasia-enchondromata-ecchondroma syndrome"],"definition":"A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3408/","orphanet_url":"https://www.orpha.net/en/disease/detail/3408","names":{"fr":{"name":"Maladie d'Upington","synonyms":["Syndrome de dysplasie de la hanche-enchondromatose-ecchondromatose"],"definition":"Dysplasie osseuse primaire rare caractérisée par des anomalies pelviennes de type Legg-Calvé-Perthes (fermeture prématurée de l'épiphyse de la tête fémorale, col fémoral élargi et tête fémorale aplatie), des arthralgies des hanches et des genoux, et par la présence d'enchondromes et d'ecchondromes. Aucun cas n'a été décrit dans la littérature depuis 1971."},"de":{"name":"Upington-Krankheit","definition":"Eine seltene primäre Knochendysplasie, die durch Perthes-artige Beckenanomalien (vorzeitiger Schluss der Femurkopf-Epiphysen, ausgeweitete Femurhälse mit flachen Femurköpfen), Arthralgien an Hüfte und Knie sowie das Auftreten von Enchondromen und Ekchondromen gekennzeichnet ist. Seit 1971 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Enfermedad de Upington","definition":"Es una displasia ósea primaria caracterizada por anomalías pélvicas similares a las de la enfermedad de Perthes (cierre prematuro de la epífisis femoral capital y cuello femoral ensanchado con cabeza femoral aplanada), artralgias de caderas y rodillas, y aparición de encondromas y excondromas. No ha habido más descripciones en la literatura desde 1971."},"it":{"name":"Malattia di Upington","definition":"Si tratta di una displasia scheletrica primitiva rara, caratterizzata da anomalie del bacino simili a quelle tipiche della malattia di Perthes (chiusura precoce delle epifisi della testa del femore e colli femorali allargati con appiattimento della testa del femore), artralgia delle anche e delle ginocchia, encondromi ed eccondromi. Non sono stati descritti nuovi casi dopo il 1971."},"nl":{"name":"Ziekte van Upington","synonyms":["Heupdysplasie - enchondromata - ecchondroom"],"definition":"Een zeldzame primaire botdysplasie, gekenmerkt door Perthes-achtige anomalieën van bekken (premature sluiting van femurkopepifysen en verbrede femurhalzen met afgevlakte femurkoppen), artralgie van heupen en knieën, en voorkomen van enchondromen en ecchondromen. Sinds 1971 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Doença de Upington"},"pl":{"name":"Choroba Upingtona","synonyms":["Dysplazja bioder - enchondroma - ecchondroma"]},"cs":{"name":"Upingtonská nemoc","synonyms":["Syndrom zahrnující kyčelní dysplázii, enchondrom a ekchondrom"]},"uk":{"name":"Хвороба Апінгтона","synonyms":["Синдром дисплазії кульшового суглоба-енхондроми-екхондроми"],"definition":"A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971."},"zh":{"name":"Upington病","synonyms":["髋发育不良-内生软骨瘤-外生软骨瘤综合征"]},"tr":{"name":"Upington hastalığı","synonyms":["Kalça displazisi-enkondromata-ekondroma sendromu"]}},"xrefs":[{"source":"OMIM","code":"191520","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1846351406"},{"source":"MONDO","code":"0008624","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536472","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860596","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5421","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"5316541[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5316541[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-23","source":"5316541[PMID]","terms":[{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003365","label":"Arthralgia of the hip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006429","label":"Broad femoral neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030038","label":"Enchondroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003370","label":"Flat capital femoral epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010588","label":"Premature epimetaphyseal fusion","frequency":"Frequent (79-30%)","criteria":null}]}}