{"orpha":3181,"name":"Sprengel deformity","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["High scapula"],"definition":"A rare thoracic malformation characterized by an underdeveloped and abnormally high scapula due to its failure to descend to the regular position during embryonic development. The defect is in most cases unilateral and may be associated with other abnormalities, such as deformities of vertebral bodies, fused or absent ribs, or genitourinary anomalies, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3181/","orphanet_url":"https://www.orpha.net/en/disease/detail/3181","names":{"fr":{"name":"Anomalie de Sprengel","synonyms":["Surélévation de l'omoplate"],"definition":"Malformation thoracique rare caractérisée par une hypoplasie et une surélévation anormale de la scapula due à un défaut de migration distale pendant le développement embryonnaire. Dans la plupart des cas unilatérale, la malformation peut être associée à d'autres anomalies, telles que des déformations des corps vertébraux, des côtes soudées ou absentes, ou des anomalies de l'appareil génito-urinaire, entre autres."},"de":{"name":"Sprengel-Deformität","synonyms":["Schulterblatthochstand","Sprengel-Phänotyp"],"definition":"Eine seltene Fehlbildung des Brustkorbs, die durch ein unterentwickeltes und abnormal hohes Schulterblatt gekennzeichnet ist, welches während der Embryonalentwicklung nicht in die reguläre Position abgesunken ist. Der Defekt ist in den meisten Fällen einseitig und kann mit anderen Anomalien einhergehen, wie z. B. Verformungen der Wirbelkörper, verschmolzene oder fehlende Rippen oder Anomalien im Urogenitalbereich."},"es":{"name":"Anomalía de Sprengel","synonyms":["Sobreelevación del omóplato"],"definition":"Es una malformación torácica poco frecuente caracterizada por una escápula infradesarrollada y anormalmente elevada debido a un fallo en el descenso a la posición normal durante el desarrollo embrionario. En la mayoría de los casos el defecto es unilateral, pudiendo estar asociado a otras anomalías, tales como deformidades de los cuerpos vertebrales, costillas fusionadas o ausentes, o anomalías genitourinarias, entre otras."},"it":{"name":"Anomalia di Sprengel","synonyms":["Sopraelevazione della scapola"],"definition":"Si tratta di una malformazione toracica rara, caratterizzata da una scapola iposviluppata e ubicata in una posizione abnormemente elevata per la mancata discesa nella posizione normale durante lo sviluppo dell'embrione. Nella maggior parte dei pazienti il difetto è monolaterale e può associarsi ad altre anomalie, tra le quali le deformità dei corpi vertebrali, la fusione o l'aplasia delle costole e le anomalie genitourinarie."},"nl":{"name":"Deformiteit van Sprengel","synonyms":["Hoogstand van scapula","Hoogstand van schouderblad","Sprengel-misvorming"],"definition":"Een zeldzame malformatie van thorax, gekenmerkt door een onderontwikkeld en abnormaal hoog staand schouderblad als gevolg van het falen van de afdaling naar de normale positie tijdens de embryonale ontwikkeling. Het defect is in de meeste gevallen unilateraal en kan geassocieerd zijn met andere afwijkingen, zoals misvormingen van wervellichamen, fusie of afwezigheid van ribben, of urogenitale anomalieën."},"pt":{"name":"Deformidade de Sprengel","synonyms":["Escápula alta"]},"pl":{"name":"Deformacja Sprengela","synonyms":["Wysoka łopatka"]},"cs":{"name":"Sprengelova deformita","synonyms":["Vysoký stav lopatky","Asymetrie lopatky"]},"uk":{"name":"Деформація Шпренгеля","synonyms":["Висока лопатка"],"definition":"A rare thoracic malformation characterized by an underdeveloped and abnormally high scapula due to its failure to descend to the regular position during embryonic development. The defect is in most cases unilateral and may be associated with other abnormalities, such as deformities of vertebral bodies, fused or absent ribs, or genitourinary anomalies, among others."},"zh":{"name":"高位肩胛","synonyms":["高位肩胛"]},"tr":{"name":"Sprengel deformitesi","synonyms":["Yüksek skapula"]}},"xrefs":[{"source":"OMIM","code":"184400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB72.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2144522441"},{"source":"MONDO","code":"0008482","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535802","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0152438","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7693","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010455","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":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003043","label":"Abnormality of the shoulder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001435","label":"Abnormality of the shoulder girdle musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008952","label":"Shoulder muscle hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null}]}}