{"orpha":1856,"name":"Spondyloperipheral dysplasia-short ulna syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1856/","orphanet_url":"https://www.orpha.net/en/disease/detail/1856","names":{"fr":{"name":"Syndrome de dysplasie spondylo-périphérique-cubitus court","definition":"Le syndrome de dysplasie spondylo-périphérique-cubitus court est une dysplasie génétique osseuse, primaire et rare. Le phénotype est très variable et se caractérise classiquement par une platyspondylie, des modifications brachydactyliques de type E (métacarpes et métatarses courtes, phalanges distales courtes au niveau des mains et des pieds), un raccourcissement bilatéral du cubitus et une taille légèrement raccourcie. Les manifestations additionnelles incluent d'autres anomalies squelettiques (hypoplasie de l'étage moyen du visage, changements dégénératifs au niveau proximal du fémur, limitation de l'extension du coude, sacralisation bilatérale de L5, pieds bots), ainsi qu'une myopie, une surdité et un déficit intellectuel."},"de":{"name":"Spondyloperiphere Dysplasie mit kurzer Ulna","definition":"Eine seltene, genetisch bedingte primäre Knochendysplasie mit sehr variablem Phänotyp, typischerweise gekennzeichnet durch Platyspondylie, Brachydaktylie Typ E (kurze Mittelhandknochen und Mittelfußknochen, kurze distale Phalangen in Händen und Füßen), bilateral verkürzte Ulna und leichte Kleinwüchsigkeit. Darüber hinaus werden zusätzliche Skelettbefunde (z. B. Mittelgesichtshypoplasie, degenerative Veränderungen der proximalen Femora, eingeschränkte Ellbogenstreckung, beidseitige Sakralisierung des fünften Lendenwirbels, Klumpfüße) sowie Kurzsichtigkeit, Hörverlust und Intelligenzminderung berichtet."},"es":{"name":"Síndrome de displasia espondilo periférica-cúbito corto","definition":"El síndrome de displasia espondilo periférica-cúbito corto, es una displasia ósea genética, poco frecuente, con un fenotipo muy variable, que se caracteriza típicamente por platispondilia, braquidactilia de tipo E (metacarpianos y metatarsianos cortos, falanges distales cortas en manos y pies), cúbito corto bilateral y una forma leve de talla baja. Otras características incluyen hallazgos esqueléticos adicionales (p. ej., hipoplasia mediofacial, cambios degenerativos en los fémures proximales, limitación a la extensión del codo, sacralización bilateral de L5, pie equinovaro), así como miopía, pérdida auditiva y discapacidad intelectual."},"it":{"name":"Displasia spondiloperiferica-ulna corta","definition":"La sindrome che associa displasia spondiloperiferica e ulna corta è una displasia scheletrica primitiva rara di origine genetica. Il quadro clinico è molto variabile, perlopiù caratterizzato da platispondilia, alterazioni secondarie alla brachidattilia di tipo E (accorciamento dei metacarpi e dei metatarsi; accorciamento delle falangi distali delle mani e dei piedi) accorciamento bilaterale dell'ulna e statura moderatamente bassa. Possono essere presenti ulteriori segni clinici scheletrici (ipoplasia medio-facciale, alterazioni degenerative della porzione prossimale del femore, limitazione dell'estensione del gomito, sacralizzazione bilaterale di L5, piedi tali), miopia, sordità e disabilità intellettiva."},"nl":{"name":"Spondyloperifere dysplasie - korte ulna-syndroom","definition":"Spondyloperifere dysplasie - korte ulna-syndroom is een zeldzame, genetische, primaire botdysplasie met een hoogst variabel fenotype dat typisch gekarakteriseerd wordt door platyspondylie, brachydactylie type E (korte metacarpalen en metatarsalen, korte distale falangen in handen en voeten), bilateraal korte ellepijpen en een mild kleine gestalte. Overige gerapporteerde kenmerken zijn onder meer bijkomende skeletale bevindingen (e.g. hypoplasie van het middengezicht, degeneratieve veranderingen in de proximale dijbeenderen, beperkte extensie van de elleboog, bilaterale sacralisatie van L5, klompvoeten), alsook myopie, gehoorverlies, en intellectuele achterstand."},"pt":{"name":"Displasia espondilo-epimetafisária-cúbito curto"},"pl":{"name":"Dysplazja kręgowo-obwodowa - krótka kość łokciowa"},"cs":{"name":"Syndrom zahrnující spondyloperiferální dysplázii a krátkou loketní kost"},"uk":{"name":"Спондилопериферична дисплазія - синдром короткої ліктьової кістки","definition":"Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability."},"zh":{"name":"脊柱周边发育不全-短尺骨综合征"},"tr":{"name":"Spondiloperiferal displazi-kısa ulna sendromu"}},"xrefs":[{"source":"OMIM","code":"271700","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":"67659062"},{"source":"MeSH","code":"C535799","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706658","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4994","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":"15316962[PMID]_23545312[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23545312[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"23545312[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-03","source":"23545312[PMID]_31021589[PMID]","terms":[{"hpo":"HP:0001384","label":"Abnormality of the hip joint","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005106","label":"Abnormality of the vertebral endplates","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045060","label":"Aplasia/hypoplasia involving bones of the extremities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008788","label":"Delayed pubic bone ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003071","label":"Flattened epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010582","label":"Irregular epiphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005863","label":"Type E brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003365","label":"Arthralgia of the hip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008812","label":"Flattened femoral head","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001377","label":"Limited elbow extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003300","label":"Ovoid vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null}]}}