{"orpha":2391,"name":"Congenitally short costocoracoid ligament","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare thoracic malformation characterized by fixation of the scapula to the first rib by a congenitally short costocoracoid ligament, leading to limited rotation or retraction of the scapula, as well as rounding of the shoulders and loss of the anterior clavicular contour. There have been no further descriptions in the literature since 1989.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2391/","orphanet_url":"https://www.orpha.net/en/disease/detail/2391","names":{"fr":{"name":"Raccourcissement congénital du ligament costo-coracoïde","definition":"Malformation thoracique rare caractérisée par la fixation de l'omoplate à la première côte en raison d'un raccourcissement congénital du ligament costocoracoïde donnant lieu à une limitation de la rotation ou à une rétraction de l'omoplate, une forme arrondie des épaules et une perte du contour claviculaire antérieur. Aucun cas n'a été décrit dans la littérature depuis 1989."},"de":{"name":"Kostokorakoides Ligament, verkürztes, kongenitales","definition":"Eine seltene thorakale Fehlbildung, die durch eine Fixierung des Schulterblatts an der ersten Rippe durch ein angeborenes kurzes Costocoracoid-Ligament gekennzeichnet ist und zu einer eingeschränkten Rotation oder Retraktion des Schulterblatts sowie zu einer Rundung der Schultern und einem Verlust der vorderen Klavikularkontur führt. Seit 1989 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Acortamiento congénito de ligamento costocoracoide","definition":"Es una malformación torácica poco frecuente caracterizada por la fijación de la escápula a la primera costilla por un acortamiento congénito del ligamento costocoracoideo. La alteración resulta en una limitación de la rotación o retracción de la escápula, así como en redondeo de los hombros y pérdida del contorno clavicular anterior. No ha habido más descripciones en la literatura desde 1989."},"it":{"name":"Accorciamento congenito del legamento costocoracoide","definition":"Si tratta di una malformazione rara del torace, caratterizzata dalla connessione della scapola alla prima costa tramite un legamento costocoracoide congenitamente corto, che determina una limitazione della rotazione o della retrazione della scapola, l'arrotondamento delle spalle e la perdita del contorno anteriore della clavicola. Non sono stati descritti nuovi casi dopo il 1989."},"nl":{"name":"Congenitaal kort costocoracoïd ligament","definition":"Een zeldzame malformatie van thorax, gekenmerkt door fixatie van scapula aan eerste rib door een congenitaal kort costocoracoïd ligament, wat leidt tot beperkte rotatie of retractie van scapula, alsook ronding van de schouders en verlies van de contour van het anterieure deel van clavicula. Sinds 1989 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Ligamento costocoracóide curto congénito"},"pl":{"name":"Wrodzone krótkie więzadło żebrowo-krucze"},"cs":{"name":"Vrozeně krátké ligamentum costocoracoideum"},"uk":{"name":"Вроджена коротка костокоракоїдна звязка","definition":"A rare thoracic malformation characterized by fixation of the scapula to the first rib by a congenitally short costocoracoid ligament, leading to limited rotation or retraction of the scapula, as well as rounding of the shoulders and loss of the anterior clavicular contour. There have been no further descriptions in the literature since 1989."},"zh":{"name":"先天性短肩胛上横韧带"},"tr":{"name":"Doğumsal kısa kostokorakoid bağ"}},"xrefs":[{"source":"OMIM","code":"122580","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007388","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536448","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852523","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1551","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":182108,"name":"Thoracic malformation","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"2596500[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2596500[PMID]"}],"phenotypes":null}