{"orpha":295030,"name":"True congenital shoulder dislocation","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital limb malformation characterized by true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac malformation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-295030/","orphanet_url":"https://www.orpha.net/en/disease/detail/295030","names":{"fr":{"name":"Luxation congénitale vraie de l'épaule","definition":"Anomalie congénitale rare des membres caractérisée par une luxation congénitale vraie de l'épaule, se développant in utero. Unilatérale ou bilatérale, elle est généralement associée à d'autres anomalies de la ceinture scapulaire, telles que des anomalies de la cavité glénoïdale, de la tête de l'humérus, de la capsule articulaire et de l'omoplate. Elle peut aussi s'accompagner d'autres malformations, telles qu'une dysplasie développementale de la hanche ou une malformation cardiaque."},"de":{"name":"Schulterdislokation, kongenitale","definition":"Eine seltene angeborene Fehlbildung der Extremitäten, die durch eine echte angeborene Luxation der Schulter gekennzeichnet ist, die sich <i>in utero</i> entwickelt. Sie kann ein- oder beidseitig auftreten und ist in der Regel mit anderen Anomalien des Schultergürtels verbunden, z. B. am Glenoid, am Oberarmkopf, an der Gelenkkapsel und am Schulterblatt. Darüber hinaus kann sie mit anderen Fehlbildungen einhergehen, wie z. B. einer entwicklungsbedingten Hüftdysplasie oder einer kardialen Fehlbildung."},"es":{"name":"Luxación congénita verdadera del hombro","definition":"Es una malformación de las extremidades congénita poco frecuente caracterizada por una luxación verdadera del hombro desarrollada <i>in utero</i>. Puede ser uni- o bilateral y por lo general se asocia a otras anomalías de la cintura escapular como en la glenoides, en la cabeza humeral, en la cápsula articular o en la escápula. Además, puede estar acompañada de otras malformaciones, tales como la displasia del desarrollo de la cadera o malformaciones cardíacas."},"it":{"name":"Dislocazione congenita vera della spalla","definition":"Si tratta di una malformazione congenita rara degli arti, caratterizzata dalla dislocazione congenita vera della spalla, che si manifesta in utero. Può essere mono- o bi-laterale, e di solito si associa ad altre anomalie del cingolo della spalla, ad esempio a livello della glenoide, della testa dell'omero, della capsula articolare e della scapola. Può associarsi ad altre malformazioni, come la displasia dello sviluppo dell'anca o le cardiopatie."},"nl":{"name":"Echte congenitale schouderluxatie","definition":"Een zeldzame, congenitale ledemaatmalformatie, gekarakteriseerd door echte congenitale dislocatie van schouder die <i>in utero</i> ontwikkelt. Het kan unilateraal of bilateraal zijn, en is meestal geassocieerd met andere anomalieën van de schoudergordel, zoals van schouderkom, humeruskop, gewrichtskapsel, en schouderblad. Bijkomend kan het gepaard gaan met andere malformaties, zoals congenitale heupdysplasie of hartmalformatie."},"pt":{"name":"Luxação congénita do ombro"},"pl":{"name":"Prawdziwe wrodzone przemieszczenie ramienia"},"cs":{"name":"Vrozená dislokace ramene"},"uk":{"name":"Дійсний вроджений вивих плеча","definition":"A rare congenital limb malformation characterized by true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac malformation."},"zh":{"name":"真性先天性肩关节脱位","definition":"一种罕见的先天性肢体畸形，特征为宫内真性先天性肩关节脱位。可为单侧或双侧，常与其他肩带异常有关，如肩胛盂、肱骨头、关节囊和肩胛骨。此外，还可伴其他畸形，如发育性髋关节发育不良或心脏畸形。"},"tr":{"name":"Gerçek doğumsal omuz çıkığı"}},"xrefs":[{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB91","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1926945459"},{"source":"MONDO","code":"17468","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5886734","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294951,"name":"Congenital joint dislocations","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}