{"orpha":228190,"name":"Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome"],"definition":"A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. There have been no further descriptions in the literature since 1999.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228190/","orphanet_url":"https://www.orpha.net/en/disease/detail/228190","names":{"fr":{"name":"Syndrome de persistance du canal artériel-bicuspidie valvulaire aortique-anomalie des mains","synonyms":["Syndrome de persistance du canal artériel-valve aortique bicuspide-anomalie des mains"],"definition":"Syndrome cardiomélique rare caractérisé par diverses anomalies cardiovasculaires, y compris persistance du canal artériel, bicuspidie aortique et pseudocoarctation de l'aorte, associées aux anomalies de la main, à savoir brachydactylie et déviation du rayon ulnaire, c'est-à-dire une hypoplasie du 5<sup>e</sup> métacarpien."},"de":{"name":"Persistierender Ducuts arteriosus-bikuspide Aortenklappe-Handanomalien-Syndrom","synonyms":["Offener Ductus arteriosus - bikuspide Aortenklappe - Handfehlbildungen"],"definition":"Das Syndrom mit offenem Ductus arteriosus, bikuspidaler Aortenklappe und Handfehlbildungen ist ein sehr seltenes Herz-Hand-Syndrom (siehe dort). Es ist gekennzeichnet durch verschiedene kardiovaskuläre Anomalien, darunter offener Ductus arteriosus, bikuspidale Aortenklappe und Pseudokoarktation der Aorta in Verbindung mit Handfehlbildungen wie Brachydaktylie und Störungen des ulnaren Strahls (z. B. Hypoplasie des 5. Metakarpale). Die Störung wird wahrscheinlich autosomal-dominant vererbt."},"es":{"name":"Síndrome de ductus arterioso persistente-válvula aórtica bicúspide-anomalías de las manos","synonyms":["Conducto arterioso persistente-válvula aórtica bicúspide-anomalías de las manos"],"definition":"El síndrome de ductus arterioso persistente - válvula aórtica bicúspide - anomalías de las manos es una forma muy poco frecuente del síndrome corazón-mano (consulte este término), que se caracteriza por una variedad de anomalías cardiovasculares incluyendo ductus arterioso persistente, válvula aórtica bicúspide y pseudocoartación de la aorta junto con anomalías de las manos como braquidactilia y derivadas del eje cubital, p.e. hipoplasia del quinto metacarpiano. La transmisión más probable es la autosómica dominante. El patrón de transmisión más probable es el autosómico dominante."},"it":{"name":"Dotto arterioso pervio - valvola aortica bicuspide - anomalie della mano","synonyms":["Pervietà del dotto arterioso - valvola aortica bicuspide - anomalie della mano"],"definition":"La sindrome dotto arterioso pervio-valvola aortica bicuspide-anomalie delle mani è una forma molto rara della sindrome cuore-mano (si veda questo termine); è caratterizzata da varie anomalie cardiovascolari, compresa la pervietà del dotto arterioso, la valvola aortica bicuspide e la pseudo-coartazione dell'aorta, associati ad anomalie delle mani, come la brachidattilia e i derivati del raggio ulnare (ad es., l'ipoplasia del quinto metacarpo)."},"nl":{"name":"Persisterende ductus arteriosus - bicuspide aortaklep - handanomalieën-syndroom","synonyms":["Open ductus Botalli - bicuspide aortaklep - handanomalieën-syndroom"],"definition":"Open ductus arteriosus - bicuspide aortaklep - handanomalieën-syndroom is een zeer zeldzaam hart-handsyndroom (zie deze term) dat gekenmerkt wordt door een verscheidenheid aan cardiovasculaire afwijkingen waaronder een open ductus arteriosus, bicuspide aortaklep en pseudocoarctatie van de aorta samen met handafwijkingen zoals brachydactylie en hypoplasie van de ulnalijnafgeleide i.e. vijfde metacarpaal. De overdracht is hoogst waarschijnlijk autosomaal dominant."},"pt":{"name":"Síndrome de ductus arteriosus patente-válvula aórtica bicúspide-anomalias das mãos","synonyms":["Síndrome de canal arterial patente-válvula aórtica bicúspide-anomalias das mãos"]},"pl":{"name":"Przetrwały przewód tętniczy - dwupłatkowa zastawka aorty - wady rąk","synonyms":["Przetrwały przewód tętniczy - dwupłatkowa zastawka aorty - anomalie rąk"]},"cs":{"name":"Syndrom zahrnující ductus arteriosus patens, bikuspidální aortální chlopeň a anomálie rukou","synonyms":["Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome"]},"uk":{"name":"Синдром відкрита артеріальна протока-двостулковий аортальний клапан-аномалія розвитку верхніх кінцівок","synonyms":["Синдром патентованої артеріальної протоки - бікуспідального аортального клапана - аномалії рук"],"definition":"A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia."},"zh":{"name":"动脉导管未闭-二尖瓣主动脉瓣-手异常综合征","synonyms":["动脉导管未闭-二尖瓣主动脉瓣-手异常综合征"],"definition":"动脉导管未闭-二叶式主动脉瓣-手异常综合征是一种非常罕见的心手综合征（见该词条），其特征是出现多种心血管异常，包括动脉导管未闭、二叶式主动脉瓣和主动脉假缩窄，并伴有手部畸形，如短指畸形和尺骨线性赘生物即第五掌骨发育不全。遗传模式很可能是常染色体显性遗传。"},"tr":{"name":"Patent duktus arteriozus-biküspid aort kapağı-el anomalileri sendromu","synonyms":["Patent arteriyel kanal-biküspid aort kapak-el anomalileri sendromu"]}},"xrefs":[{"source":"OMIM","code":"604381","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA8Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011454","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302746","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":228184,"name":"Heart-hand syndrome","classifications":[147,156,199]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"10533032[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-13","source":"10533032[PMID]_19591690[PMID]","terms":[{"hpo":"HP:0005922","label":"Abnormal hand morphology","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0005295","label":"Pseudocoarctation of the aorta","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010047","label":"Short 5th metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011927","label":"Short digit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Excluded (0%)","criteria":null}]}}