{"orpha":93349,"name":"X-linked spondyloepimetaphyseal dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93349/","orphanet_url":"https://www.orpha.net/en/disease/detail/93349","names":{"fr":{"name":"Dysplasie spondylo-épimétaphysaire liée à l'X","definition":"Dysplasie osseuse primaire, rare d'origine génétique, caractérisée par une petite taille disproportionnée et un raccourcissement mésomélique des membres, des jambes arquées, une lordose lombaire, une brachydactylie, une laxité articulaire et une démarche dandinante. Les radiographies montrent une platyspondylie avec saillie centrale de la face antérieure des corps vertébraux, une cyphose et un raccourcissement marqué des os longs avec des épiphyses dysplasiques et des métaphyses évasées, irrégulières, en forme de coupe."},"de":{"name":"Dysplasie, spondyloepimetaphysäre, X-chromosomale","definition":"Die X-chromosomale spondyloepimetaphysäre Dysplasie ist eine seltene, genetisch bedingte primäre Knochendysplasie, die sich durch eine unverhältnismäßig kurze Statur mit Mesomelie der kurzen Gliedmaßen, Genum varum, Lendenlordose, Brachydaktylie, Gelenklaxität und einen watschelnden Gang auszeichnet. Die Röntgenaufnahmen zeigen eine Platyspondylie mit zentraler Protrusion der vorderen Wirbelkörper, kyphotischer Angulation und sehr kurzen langen Knochen mit dysplastischen Epiphysen und aufgeweiteten, unregelmäßigen, schalenförmigen Metaphysen."},"es":{"name":"Displasia espondiloepimetafisaria ligada al cromosoma X","definition":"Es una displasia ósea primaria, genética y poco frecuente, caracterizada por talla baja desproporcionada con acortamiento mesomélico de extremidades, arqueamiento de las piernas, lordosis lumbar, braquidactilia, laxitud articular y marcha anserina. Las radiografías muestran platispondilia con protrusión central de los cuerpos vertebrales anteriores, angulación cifótica y huesos largos muy acortados con epífisis displásicas y metáfisis acampanadas, irregulares y ahuecadas."},"it":{"name":"Displasia spondiloepimetafisaria legata all'X","definition":"La displasia spondiloepimetafisaria legata all'X è una displasia scheletrica primitiva rara, di origine genetica, caratterizzata da bassa statura sproporzionata con accorciamento mesomelico degli arti, incurvatura delle gambe, lordosi lombare, brachidattilia, lassità articolare ed andatura a base allargata. Le radiografie evidenziano platispondilia con protrusione centrale della porzione anteriore dei corpi vertebrali, angolazione cifotica e marcato accorciamento delle ossa lunghe, con epifisi displastiche e metafisi irregolari, svasate e a coppa."},"nl":{"name":"X-gebonden spondylo-epimetafysaire dysplasie","definition":"Een zeldzame, genetische, primaire botdysplasie, gekarakteriseerd door disproportioneel kleine gestalte met mesomele verkorting van ledematen, verkromming van benen, lumbale lordose, brachydactylie, gewrichtslaxiteit en een waggelende gang. Radiografie toont platyspondylie met centrale protrusie van anterieure wervellichamen, kyfotische angulatie en zeer korte pijpbeenderen met dysplastische epifysen en verwijde, onregelmatige, komvormige metafysen."},"pt":{"name":"Displasia espondiloepimetafisária ligada ao X"},"pl":{"name":"Dysplazja kręgowo-nasadowo-przynasadowa sprzężona z chromosomem X","definition":"*Dysplazja kręgowo-nasadowo-przynasadowa sprzężona z chromosomem X jest rzadką, genetycznie uwarunkowaną, pierwotną dysplazji kostną, która charakteryzuje się nieproporcjonalnym niskim wzrostem z mezomelicznym skróceniem kończyn, łukowatym wygięciem kończyn dolnych, lordozą lędźwiową, brachydaktylią (skrócenie palców), nadmierną ruchomością stawów i kaczkowatym chodem. Na zdjęciach rentgenowskich widoczne jest spłaszczenie kręgów z centralnym uwypukleniem przedniego odcinka trzonów kręgowych, kyfoza i wyraźne skrócenie kości długich z dysplastycznymi nasadami i poszerzonymi, nieregularnymi, kielichowatymi przynasadami."},"cs":{"name":"X-vázaná spondyloepimetafyzární dysplázie"},"uk":{"name":"Х-зчеплена спондилоепіметафізарна дисплазія","definition":"A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses."},"zh":{"name":"X连锁脊椎干骺端发育不良","definition":"一种罕见的遗传性原发性骨发育不全症，特征为不成比例的身材矮小，伴四肢中部短小，腿弯曲，腰椎前凸，短指/趾畸形，关节松弛和蹒跚步态。放射学检查显示椎体扁平伴前椎体中央突出，脊柱后凸成角，长骨极短伴骨骺发育不良和干骺端呈喇叭状、不规则、杯状。"},"tr":{"name":"X'e bağlı spondiloepimetafizyal displazi"}},"xrefs":[{"source":"OMIM","code":"300106","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":"1143500023"},{"source":"MONDO","code":"0010248","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564714","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848097","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4979","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]}],"children":[],"genes":[{"symbol":"BGN","name":"biglycan","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27236923[PMID]","hgnc":"1044","ensembl":"ENSG00000182492","omim":"301870","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8064814[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"27236923[PMID]_8064814[PMID]_ORPHANET"}],"phenotypes":null}