{"orpha":228184,"name":"Heart-hand syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Atriodigital dysplasia"],"definition":"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228184/","orphanet_url":"https://www.orpha.net/en/disease/detail/228184","names":{"fr":{"name":"Syndrome cardiomélique","synonyms":["Dysplasie atrio-digitale","Syndrome coeur-main","Syndrome coeur-membres"],"definition":"Le syndrome cardiomélique désigne un groupe de troubles congénitaux caractérisés par des malformations des membres supérieurs et du coeur. A ce jour, le syndrome cardiomélique comprend les syndromes rares suivants: le syndrome de Holt-Oram; le syndrome cardiomélique type 2; le syndrome cardiomélique type 3; le syndrome cardiomélique type slovène; le syndrome de pouce long-brachydactylie; et le syndrome de persistance du canal artériel-bicuspidie valvulaire aortique-anomalie des mains."},"de":{"name":"Herz-Hand-Syndrom","synonyms":["Dysplasie, atriodigitale"],"definition":"Das Herz-Hand-Syndrom umfasst eine Gruppe von Krankheiten mit angeborenen Fehlbildungen der oberen Gliedmaßen und des Herzens. Gegenwärtig werden die folgenden seltenen Herz-Hand-Syndrome unterschieden: Holt-Oram-Syndrom; Herz-Hand-Syndrom Typ 2; Herz-Hand-Syndrom Typ 3; Slowenischer Typ des Herz-Hand-Syndroms; Brachydaktylie - langer Daumen und das Syndrom Offener Ductus arteriosus - bikuspide Aortenklappe - Handanomalien (siehe diese Termini)."},"es":{"name":"Síndrome corazón-mano","synonyms":["Displasia atriodigital"],"definition":"El síndrome corazón-mano se refiere a un grupo de trastornos congénitos que se caracterizan por malformaciones de las extremidades superiores y el corazón. Hasta la fecha, el síndrome corazón-mano abarca los siguientes síndromes raros: síndrome de Holt-Oram; síndrome corazón-mano tipo 2; síndrome corazón-mano tipo 3; síndrome corazón-mano, tipo esloveno; braquidactilia-pulgar largo; y ductus arterioso persistente - válvula aórtica bicúspide - anomalías de las manos (consulte estos términos)."},"it":{"name":"Sindrome cuore-mano","synonyms":["Displasia atriodigitale"],"definition":"La sindrome cuore-mano fa riferimento a un gruppo di patologie congenite caratterizzate da difetti degli arti superiori e cardiopatie. La sindrome cuore-mano comprende le seguenti sindromi rare: sindrome di Holt-Oram; sindrome cuore-mano tipo 2; sindrome cuore-mano tipo 3; sindrome cuore-mano tipo sloveno; brachidattilia-pollice lungo; dotto arterioso pervio-valvola aortica bicuspide-anomalie delle mani (si vedano questi termini)."},"nl":{"name":"Hart-handsyndroom","synonyms":["Atriodigitale dysplasie"],"definition":"'Hart-handsyndroom verwijst naar een groep congenitale aandoeningen die worden gekarakteriseerd door misvormingen van de bovenste ledematen en het hart. Heden omvat hart-handsyndroom de volgende zeldzame syndromen: Holt-Oramsyndroom; hart-handsyndroom type 2; hart-handsyndroom type 3; hart-handsyndroom, Sloveens type; brachydactylie - lange duim; en open ductus arteriosus - bicuspide aortaklep - handanomalieën (zie deze termen).'"},"pt":{"name":"Síndrome coração-mão"},"pl":{"name":"Zespół serce-ręka","synonyms":["Dysplazja przedsionkowo-palcowa"]},"cs":{"name":"Syndrom srdce-ruka","synonyms":["Atriodigitální dysplázie"]},"uk":{"name":"Синдром серце-рука","synonyms":["Атріодигітальна дисплазія"],"definition":"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)."},"zh":{"name":"心-手综合征","synonyms":["手指发育不良"],"definition":"心-手综合征是一组以上肢和心脏畸形为特征的先天性疾病。目前包括以下罕见的综合征：Holt-Oram综合征；心-手综合征2型；心-手综合征3型；心-手综合征斯洛文尼亚型，短指-长拇指；动脉导管未闭-二叶式主动脉瓣-手异常（见这些词条）。"},"tr":{"name":"Kalp-el sendromu","synonyms":["Atriodijital displazi"]}},"xrefs":[{"source":"MONDO","code":"0016432","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16432","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848054","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404571,"name":"Dysostosis of genetic origin with limb anomaly as a major feature","classifications":[156]},{"orpha":364568,"name":"Dysostosis with limb anomaly as a major feature","classifications":[147,199]},{"orpha":404577,"name":"Genetic syndrome with limb malformations as a major feature","classifications":[156]},{"orpha":109009,"name":"Syndrome with limb malformations as a major feature","classifications":[147]}],"children":[{"orpha":2946,"name":"Brachydactyly-long thumb syndrome","type":"Malformation syndrome"},{"orpha":319340,"name":"Carney complex-trismus-pseudocamptodactyly syndrome","type":"Disease"},{"orpha":1350,"name":"Heart-hand syndrome type 2","type":"Malformation syndrome"},{"orpha":1342,"name":"Heart-hand syndrome type 3","type":"Malformation syndrome"},{"orpha":168796,"name":"Heart-hand syndrome, Slovenian type","type":"Malformation syndrome"},{"orpha":392,"name":"Holt-Oram syndrome","type":"Malformation syndrome"},{"orpha":228190,"name":"Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}