{"orpha":1342,"name":"Heart-hand syndrome type 3","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Atriodigital dysplasia type 3","Cardiomelic syndrome type 3","Heart-hand syndrome, Spanish type","Heart-limb syndrome type 3"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, affecting principally the middle phalanges of both hands, in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. There have been no further descriptions in the literature since 1980.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1342/","orphanet_url":"https://www.orpha.net/en/disease/detail/1342","names":{"fr":{"name":"Syndrome coeur-main type 3","synonyms":["Dysplasie atrio-digitale type 3","Syndrome cardiomélique type 3","Syndrome cardiomélique type espagnol","Syndrome coeur-membres type 3"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par un trouble de la conduction cardiaque (maladie du sinus, bloc de branche) et une brachydactylie, affectant principalement les phalanges moyennes des deux mains, en association avec un ossicule supplémentaire sur la phalange proximale des deux index. Les anomalies des pieds sont plus subtiles. Aucun cas n'a été décrit dans la littérature depuis 1980."},"de":{"name":"Herz-Hand-Syndrom Typ 3","synonyms":["Atriodigitale Dysplasie Typ 3","Herz-Hand-Syndrom, spanische Form","Kardiomeles Syndrom Typ 3"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch Reizleitungsstörungen des Herzens (Sick-Sinus-Syndrom, Schenkelblock) und Brachydaktylie gekennzeichnet ist, die hauptsächlich die Mittelglieder beider Hände betrifft, in Verbindung mit einem zusätzlichen Gehörknöchelchen an der proximalen Phalanx beider Zeigefinger. Die Anomalien an den Füßen sind subtiler. Seit 1980 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de corazón-mano tipo 3","synonyms":["Displasia atriodigital tipo 3","Síndrome cardiomélico tipo 3","Síndrome de corazón-extremidad tipo 3","Síndrome de corazón-mano tipo español"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente caracterizado por un defecto de la conducción cardíaca (seno enfermo, bloqueo de rama) y braquidactilia, que afecta principalmente a las falanges medias de ambas manos, en conjunción con un osículo extra en la falange proximal de ambos dedos índice. Las anomalías de los pies son más sutiles. No ha habido más descripciones en la literatura desde 1980."},"it":{"name":"Sindrome cuore-mano, tipo 3","synonyms":["Displasia atriodigitale, tipo 3","Sindrome cardiomelica, tipo 3","Sindrome cuore-arti, tipo 3","Sindrome cuore-mano, tipo spagnolo"],"definition":"La sindrome cuore-mano tipo 3 è una forma molto rara della sindrome cuore-mano (si veda questo termine), descritta finora in tre soggetti di una famiglia spagnola, caratterizzata da un difetto della conduzione cardiaca (nodo del seno, blocco di branca) e brachidattilia, simili alla brachidattilia tipo C delle mani (si veda questo termine), che interessa prevalentemente le falangi intermedie con un ossicino soprannumerario nella falange prossimale degli indici. I piedi sono interessati in maniera più lieve."},"nl":{"name":"Hart-handsyndroom type 3","synonyms":["Atriodigitale dysplasie type 3","Cardiomelisch syndroom type 3","Hart-handsyndroom, Spaans type","Hart-ledemaatsyndroom type 3"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door hartgeleidingsdefect ('sick sinus', bundeltakblok) en brachydactylie die vooral middelste falangen van beide handen aantast, in combinatie met een extra beentje op de proximale falanx van beide wijsvingers. Afwijkingen van de voeten zijn subtieler. Sinds 1980 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome coração-mão tipo 3","synonyms":["Síndrome atriodigital tipo 3","Síndrome cardiomélico tipo 3","Síndrome coração-mão, tipo Espanhol"],"definition":"Síndrome dismórfica/anomalias congénitas múltiplas rara caracterizada por defeito de condução cardíaca (doença do nodo sinudal, bloqueio de ramo) e braquidactilia, afetando principalmente as falanges médias de ambas as mãos, em conjunto com um ossículo extra na falange proximal de ambos os dedos indicadores. As anomalias nos pés são mais subtis. Não existem descrições adicionais na literatura desde 1980."},"pl":{"name":"Zespół serce-ręka typu 3","synonyms":["Dysplazja przedsionkowo-palcowa typu 3","Zespół serce-kończyna typu 3","Zespół serce-ręka, typ hiszpański"],"definition":"Rzadki zespół mnogich wad wrodzonych / zespół dysmorficzny, który charakteryzuje się zaburzeniami przewodnictwa w sercu (zespół chorej zatoki, blok odnogi pęczka Hisa) i brachydaktylią, która dotyczy głównie środkowych paliczków obu rąk, z towarzyszącą dodatkową kosteczką na bliższych paliczkach obu palców wskazujących. Nieprawidłowości stóp są bardziej subtelne. Od 1980 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Syndrom ruka-srdce, typ 3","synonyms":["Atriodigitální dysplázie, typ 3","Kardiomelický syndrom, typ 3","Syndrom ruka-srdce, španělský typ"]},"uk":{"name":"Синдром серце-рука, тип 3","synonyms":["Атріодигітальна дисплазія типу 3","Кардіомелічний синдром типу 3","Синдром серце-рука, іспанський тип","Синдром нижніх відділів серця, тип 3"],"definition":"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle."},"zh":{"name":"心-手综合征3型","synonyms":["心-手综合征，西班牙型"]},"tr":{"name":"Kalp-el sendromu tip 3","synonyms":["Kalp-ekstremite sendromu tip 3","Kardiyomelik sendrom tip 3","Atriodijital displazi tip 3","El kalp sendromu, İspanyol tipi"]}},"xrefs":[{"source":"OMIM","code":"140450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1878745129"},{"source":"MONDO","code":"0007702","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535853","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1841657","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2614","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":228184,"name":"Heart-hand syndrome","classifications":[147,156,199]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"7450756[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"7450756[PMID]_ORPHANET"}],"phenotypes":null}