{"orpha":137678,"name":"Spondyloepiphyseal dysplasia with metatarsal shortening","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Czech dysplasia, metatarsal type","SED with metatarsal shortening"],"definition":"A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137678/","orphanet_url":"https://www.orpha.net/en/disease/detail/137678","names":{"fr":{"name":"Dysplasie spondyloépiphysaire avec raccourcissement des métatarsiens","synonyms":["Dysplasie tchèque type métatarsique","SED avec raccourcissement des métatarsiens"],"definition":"Dysplasie osseuse primaire rare d'origine génétique, caractérisée par une pseudo polyarthrite rhumatoïde progressive qui débute dans l'enfance et par une hypoplasie/dysplasie des III, IV et/ou V métatarsiens, en l'absence d'anomalies ophtalmologiques, de fente palatine et de retard de croissance."},"de":{"name":"Dysplasie, spondyloepiphysäre, mit metatarsaler Verkürzung","synonyms":["SED mit metatarsaler Verkürzung","Tschechische Dysplasie, metatarsaler Typ"],"definition":"Eine genetisch bedingte primäre Knochendysplasie, die durch eine früh einsetzende, fortschreitende pseudorheumatoide Arthritis, Platyspondylie und Hypoplasie/Dysplasie des dritten und vierten Mittelfußknochens gekennzeichnet ist, ohne dass ophthalmologische Anomalien, Gaumenspalten oder Größenanomalien vorliegen."},"es":{"name":"Displasia espondiloepifisaria con acortamiento metatarsiano","synonyms":["Displasia checa, tipo metatarsiano"],"definition":"Es una displasia ósea primaria, de origen genético poco frecuente, caracterizada por el inicio temprano de artritis pseudorreumatoide progresiva, platispondilia e hipoplasia/displasia del tercer y cuarto metatarsianos en ausencia de afectación oftalmológica, paladar hendido y anomalías de la talla."},"it":{"name":"Displasia spondiloepifisaria con accorciamento dei metatarsi","synonyms":["Displasia ceca, tipo metatarsico","SED con accorciamento dei metatarsi"],"definition":"Si tratta di una displasia scheletrica primitiva rara, di origine genetica, caratterizzata da artrite pseudoreumatoide progressiva a esordio precoce, platispondilia e ipoplasia/displasia del terzo e quarto metatarso, in assenza di anomalie oculari e della statura, e di palatoschisi."},"nl":{"name":"Spondylo-epifysaire dysplasie met abnormaal korte metatarsalen","synonyms":["SED met abnormaal korte metatarsalen","Tsjechische dysplasie, metatarsaal type"],"definition":"Een zeldzame, genetische, primaire botdysplasie, gekarakteriseerd door vroeg aanvangende, progressieve pseudoreumatoïde artritis, platyspondylie, en hypoplasie/dysplasie van derde en vierde metatarsalen, in afwezigheid van oftalmologische anomalieën, gespleten verhemelte, en abnormale lichaamslengte."},"pt":{"name":"Displasia espondiloepifisária com encurtamento metafisário","synonyms":["Displasia checa tipo metatársica"],"definition":"A displasia checa, tipo metatarsal, é uma forma de displasia esquelética caracterizada por grave artropatia de início na infância e hipoplasia/displasia do terceiro, quarto e/ou quinto dedos do pés."},"pl":{"name":"Dysplazja kręgosłupowo-nasadowa ze skróceniem sródstopia","synonyms":["Czech dysplasia, metatarsal type","SED with metatarsal shortening"]},"cs":{"name":"Česká dysplázie, metatarzální typ","synonyms":["Czech dysplasia, metatarsal type","SED with metatarsal shortening"]},"uk":{"name":"Спондилоепіфізарна дисплазія з вкороченням плеснової кістки","synonyms":["Чеська дисплазія, плесновий тип","SED з укороченням плеснової кістки"],"definition":"A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies."},"zh":{"name":"跖骨型Czech发育不良","synonyms":["Czech dysplasia, metatarsal type","SED with metatarsal shortening"],"definition":"跖骨型Czech发育不良是一种罕见的、遗传性的、原发性骨发育不良疾病，其特征为早发性进行性假性风湿性关节炎、阔脊椎和第三、第四跖骨发育不全，无眼科表现、腭裂和身高异常。"},"tr":{"name":"Çek displazisi, metatarsal tip","synonyms":["Czech dysplasia, metatarsal type","SED with metatarsal shortening"]}},"xrefs":[{"source":"OMIM","code":"609162","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"237661373"},{"source":"MONDO","code":"0012206","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535766","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836683","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10220","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]},{"orpha":93421,"name":"Type 2 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17726487[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"30363003[PMID]_19764028[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30363003[PMID]"}],"phenotypes":null}