{"orpha":438117,"name":"Steel syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome"],"definition":"A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-438117/","orphanet_url":"https://www.orpha.net/en/disease/detail/438117","names":{"fr":{"name":"Syndrome de Steel","synonyms":["Syndrome de luxation bilatérale de la hanche et de la tête radiale-petite taille-scoliose-coalition carpienne-pieds creux-dysmorphie faciale"],"definition":"Maladie osseuse rare d'origine génétique caractérisée par une petite taille, une luxation bilatérale congénitale de la hanche, une luxation de la tête radiale, une coalition carpienne, une scoliose, des pieds creux et une subluxation atlanto-axiale. La dysmorphie faciale comprend un front large, une large arête nasale, un hypertélorisme et une légère hypoplasie du massif facial médian. Une association avec une perte auditive neurosensorielle bilatérale a également été décrite."},"de":{"name":"Steel-Syndrom","synonyms":["Beidseitige Hüft- und Radiusköpfchen-Dislokation-Kleinwuchs-Skoliose-Karpalfusionen-Pes cavus-Gesichtsdysmorphie-Syndrom"],"definition":"Eine seltene genetisch bedingte Knochenkrankheit, die durch Kleinwuchs, beidseitige kongenitale Hüftluxation, Radialkopfluxation, Karpalkoalition, Skoliose, Pes cavus und atlantoaxiale Subluxation gekennzeichnet ist. Zu den Gesichtsdysmorphien gehören eine breite Stirn, ein breiter Nasenrücken, Hypertelorismus und eine leichte Mittelgesichtshypoplasie. Es wurde auch eine Assoziation mit beidseitiger Schallempfindungsschwerhörigkeit beschrieben."},"es":{"name":"Síndrome de Steel","synonyms":["Síndrome de luxación bilateral de la cadera y la cabeza radial-talla baja-escoliosis-coaliciones carpales-pie cavo-dismorfia facial"],"definition":"Es una enfermedad ósea de base genética y poco frecuente caracterizada por talla baja, luxación congénita bilateral de la cadera, luxación de la cabeza radial, coalición carpiana, escoliosis, pie cavo y subluxación atlantoaxial. Los rasgos faciales dismórficos incluyen frente amplia, puente nasal ancho, hipertelorismo e hipoplasia leve del tercio medio facial. También se ha descrito asociación con hipoacusia neurosensorial bilateral."},"it":{"name":"Sindrome di Steel","synonyms":["Sindrome lussazione bilaterale del capitello radiale e dell'anca-bassa statura-scoliosi-fusione dei carpi-piede cavo-dismorfismi facciali"],"definition":"Si tratta di una malattia scheletrica rara, di origine genetica, caratterizzata da bassa statura, dislocazione bilaterale congenita dell'anca, dislocazione della testa del radio, fusione carpale, scoliosi, piede cavo e sublussazione atlanto-assiale. I dismorfismi comprendono la fronte ampia, la sella nasale larga, l'ipertelorismo e una lieve ipoplasia medio-facciale. La malattia può associarsi alla sordità neurosensoriale bilaterale."},"nl":{"name":"Syndroom van Steel","synonyms":["Bilaterale luxaties van heup en radiuskop - kleine gestalte - scoliose - carpale coalities - pes cavus - faciale dysmorfie-syndroom"],"definition":"Een zeldzame, genetische aandoening van bot, gekarakteriseerd door kleine gestalte, bilaterale congenitale luxatie van heup, luxatie van radiuskop, abnormale fusie van os carpale, scoliose, pes cavus, en atlanto-axiale subluxatie. Dysmorfe gelaatskenmerken zijn onder meer breed voorhoofd, brede neusbrug, hypertelorisme, en milde hypoplasie van middengezicht. Associatie met bilateraal sensorineuraal gehoorverlies werd ook reeds beschreven."},"pt":{"name":"Síndrome de Steel"},"pl":{"name":"Zespół Steela","synonyms":["Zespół obustronnych zwichnięć bioder i głowy kości promieniowej, niskiego wzrostu, skoliozy, zrostów kości nadgarstka, stopy wydrążonej i dysmorfii twarzy"]},"cs":{"name":"Steelův syndrom","synonyms":["Syndrom zahrnující bilaterální luxaci kyčle a hlavice radia, malý vzrůst, skoliózu, fúzi karpálních kůstek, pes cavus a faciální dysmorfismus"]},"uk":{"name":"Синдром Стіла","synonyms":["Синдром двостороннього вивиху стегна та головки променевої кістки - низькорослості - сколіозу - коаліції запястка - pes cavus - дисморфізму обличчя"],"definition":"A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described."},"zh":{"name":"Steel 综合征","synonyms":["双侧髋关节和桡骨骨头脱位-身材矮小-脊柱侧凸-腕骨联合-高足弓-面部畸形综合征"]},"tr":{"name":"Steel sendromu","synonyms":["İki taraflı kalça ve radyal kafa çıkıkları-kısa boy-skolyozis-karpal koalisyonlar-pes kavus-fasiyal dismorfizm sendromu"]}},"xrefs":[{"source":"OMIM","code":"615155","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.E","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014061","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3554594","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93441,"name":"Primary bone dysplasia with multiple joint dislocations","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"COL27A1","name":"collagen type XXVII alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24986830[PMID]","hgnc":"22986","ensembl":"ENSG00000196739","omim":"608461","loci":["9q32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"8423186[PMID]_20357596[PMID]_24986830[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8423186[PMID]_20357596[PMID]_24986830[PMID]"}],"phenotypes":null}