{"orpha":370015,"name":"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SEMDIST","Spondyloepimetaphyseal dysplasia with severe short stature"],"definition":"A rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370015/","orphanet_url":"https://www.orpha.net/en/disease/detail/370015","names":{"fr":{"name":"Dysplasie spondylo-épimétaphysaire type Isidor-Toutain","synonyms":["Syndrome de dysplasie spondylo-épimétaphysaire-petite taille sévère"],"definition":"Dysplasie osseuse primaire rare caractérisée par une taille normale à la naissance avec un retard de croissance post-natal précoce à l'origine d'une petite taille disproportionnée de forme sévère (tronc et membres courts), un genu varum sévère, des contractures de flexion dans les hanches et une hyperlordose lombaire. Les examens radiologiques mettent en évidence une platyspondylie avec indentation centrale des plateaux vertébraux, des anomalies progressives et sévères des épiphyses et des métaphyses touchant principalement les membres inférieurs (à type d'épiphyses proximales du genou et du fémur irrégulières et très petites, de coxa vara sévère, de retard d'ossification des épiphyses proximales du fémur, de métaphyses proximales du tibia et de métaphyses distales du fémur irrégulières)."},"de":{"name":"Dysplasie, spondyloepimetaphysäre, Typ Isidor-Toutain","synonyms":["SEMDIST","Spondyloepimetaphysäre Dysplasie mit starkem Kleinwuchs"]},"es":{"name":"Displasia espondiloepimetafisaria tipo Isidor-Toutain","synonyms":["Displasia espondiloepimetafisaria con talla baja extrema","SEMDIST"],"definition":"La displasia espondiloepimetafisaria, tipo Isidor, es una displasia ósea primaria poco frecuente caracterizada por talla normal al nacimiento con deficiencia temprana de crecimiento postnatal, lo que resulta en talla baja desproporcionada grave (con tronco y extremidades cortas), genu varo grave, contracturas de flexión en las caderas e hiperlordosis lumbar. Los hallazgos radiológicos revelan platispondilia con hendidura central en las placas vertebrales, anomalías epimetafisarias progresivas y graves que afectan principalmente a las extremidades inferiores y que incluyen epífisis femoral proximal y de rodilla muy pequeñas e irregulares, coxa vara grave, retraso en la osificación de la epífisis femoral proximal, y metafisis tibial proximal y femoral distal irregulares."},"it":{"name":"Displasia spondiloepimetafisaria, tipo Isidor-Toutain","synonyms":["Displasia spondiloepimetafisaria con statura notevolmente bassa","SEMDIST"],"definition":"La displasia spondiloepimetafisaria tipo Isidor è una displasia scheletrica primitiva rara, caratterizzata da lunghezza normale alla nascita, con successivo ritardo precoce della crescita, che esita in una statura molto bassa sproporzionata (con accorciamento del tronco e degli arti), ginocchio marcatamente varo, contratture in flessione delle anche ed iperlordosi lombare. Le radiografie evidenziano platispondilia con depressione centrale dei piatti vertebrali, anomalie epimetafisarie gravi e progressive che interessano prevalentemente gli arti inferiori e comprendono le irregolarità e l'ipoplasia delle epifisi prossimali del femore e del ginocchio, la coxa vara marcata, il ritardo dell'ossificazione delle epifisi prossimali del femore, e le irregolarità delle metafisi nella porzione distale del femore e nella porzione prossimale della tibia."},"nl":{"name":"Spondylo-epimetafysaire dysplasie, Isidor-Toutain-type","synonyms":["SEMDIST","Spondylo-epimetafysaire dysplasie met ernstige kleine gestalte"],"definition":"Spondylo-epimetafysaire dysplasie, Isidor-type is een zeldzame primaire botdysplasie die gekarakteriseerd wordt door een normale lichaamslengte bij de geboorte maar vroege postnatale groeideficiëntie met ernstige disproportioneel kleine gestalte (met korte romp en ledematen) tot gevolg, ernstige genu varum, flexiecontracturen in de heupen, en lumbale hyperlordose. Radiologische bevindingen tonen platyspondylie met centrale indeuking van vertebrale eindplaten, progressieve en ernstige epimetafysaire afwijkingen die voornamelijk de onderste ledematen treffen en die onder meer zeer kleine, onregelmatige proximale epifysen van dijbeen en knie omvatten, ernstige coxa vara, vertraagde ossificatie van proximale femorale epifysen, en onregelmatige distale femorale en proximale tibiale metafysen."},"pt":{"name":"Displasia espondilometafisária, tipo Isidor","synonyms":["Displasia espondiloepimetafisária com baixa estatura grave"]},"pl":{"name":"Dysplazja kręgowo-nasadowo-przynasadowa typu Isidora","synonyms":["SEMDIST","Spondyloepimetaphyseal dysplasia with severe short stature"],"definition":"*Dysplazja kręgowo-nasadowo-przynasadowa typu Isidora jest rzadką pierwotną dysplazją kostną, która charakteryzuje się prawidłową długością urodzeniową z wczesnym zaburzeniem wzrastania po urodzeniu, co skutkuje ciężkim nieproporcjonalnie niskim wzrostem (z krótkim tułowiem i krótkimi kończynami), znaczną szpotawością kolan, przykurczami zgięciowymi bioder i hiperlordozą lędźwiową. W badaniu radiologicznym widoczne są spłaszczone kręgi z centralnym wgłębieniem blaszek granicznych trzonów kręgów, postępujące i ciężkie nieprawidłowości nasad i przynasad, które dotyczą głównie kończyn dolnych i obejmują bardzo małe, nieregularne nasady bliższe kości udowych i kolan, znaczna szpotawość bioder, opóźnione kostnienie nasad bliższych kości udowej oraz nieregularne dystalne przynasady kości udowych i bliższe przynasady kości piszczelowych."},"cs":{"name":"Spondyloepimetafyzární dysplázie, typ Isidor","synonyms":["SEMDIST","Spondyloepimetaphyseal dysplasia with severe short stature"]},"uk":{"name":"Спондилоепіметафізарна дисплазія, тип Ісидора-Тутена","synonyms":["SEMDIST","Спондилоепіметафізарна дисплазія з вираженою низькорослістю"],"definition":"A rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses."},"zh":{"name":"Isidor型脊柱-上肢-干骺端发育不良","definition":"脊柱外膜干骺端发育不良Isidor型是一种罕见的原发性骨发育不良疾病，其特征是出生时身长正常，出生后早期发育不良，导致严重不成比例的矮小(躯干和四肢短小)、严重的膝内翻、髋关节屈曲挛缩和腰椎前凸。放射学结果显示颈椎病伴有椎体终板中央凹陷，进行性和严重的干骺端异常，主要影响下肢，包括非常小的不规则的股骨和膝关节近端骨骺，严重的髋内翻，股骨近端骨骺延迟骨化，股骨远端和胫骨近端干骺端不规则。"},"tr":{"name":"Spondiloepimetafizyal displazi, Isidor tipi"}},"xrefs":[{"source":"OMIM","code":"618728","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":"attributed","validated":true},{"source":"MONDO","code":"0018254","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5231478","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":642737,"name":"OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"RPL13","name":"ribosomal protein L13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31630789[PMID]","hgnc":"10303","ensembl":"ENSG00000167526","omim":"113703","loci":["16q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23956136[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}