{"orpha":1350,"name":"Heart-hand syndrome type 2","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Atriodigital dysplasia type 2","Tabatznik syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). There have been no further descriptions in the literature since 1990.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1350/","orphanet_url":"https://www.orpha.net/en/disease/detail/1350","names":{"fr":{"name":"Syndrome cardiomélique type 2","synonyms":["Dysplasie atrio-digitale type 2","Syndrome coeur-main type 2","Syndrome coeur-membres type 2","Syndrome de Tabatznik"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par des malformations des membres supérieurs (brachytéléphalangie de type&nbsp;D, hypoplasie des muscles deltoïdes, léger raccourcissement des 4<sup>es</sup> et 5<sup>es</sup> métacarpiens chez certains patients, anomalies squelettiques de l'humérus, du radius, de l'ulna et du premier métacarpien) et des arythmies cardiaques (troubles du rythme jonctionnel et fibrillation auriculaire). Aucun cas n'a été décrit dans la littérature depuis&nbsp;1990."},"de":{"name":"Herz-Hand-Syndrom Typ 2","synonyms":["Tabatznik-Syndrom"],"definition":"Ein seltenes kongenitales Syndrom mit multiplen Fehlbildungen/Dysmorphien, das gekennzeichnet ist durch Fehlbildungen der oberen Gliedmaßen (Brachytelephalangie Typ D, hypoplastischer Deltoid-Muskel, leichte Verkürzung der 4. und 5. Metakarpalia bei einigen Betroffenen, Fehlbildungen von Humerus, Radius, Ulna und Thenar-Knochen) und Herzrhythmusstörungen (junktionale Rhythmen und Vorhofflimmern). Seit 1990 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome corazón-mano tipo 2","synonyms":["Síndrome de Tabatznik"],"definition":"Es síndrome dismórfico/de múltiples anomalías congénitas poco frecuente caracterizado por malformaciones de las extremidades superiores (braquitelefalangia tipo D, hipoplasia del deltoides, acortamiento leve del cuarto y quinto metacarpianos en algunos pacientes, anomalías esqueléticas en el húmero, radio, cúbito y tenar) y arritmias cardíacas (ritmos de la unión y fibrilación auricular). No ha habido más descripciones en la literatura desde 1990."},"it":{"name":"Sindrome cuore-mano, tipo 2","synonyms":["Sindrome di Tabatznik"],"definition":"La sindrome cuore-mano tipo 2 è una forma estremamente rara della sindrome cuore-mano (si vedano questi termini), descritta finora in due famiglie e caratterizzata da malformazioni degli arti superiori (brachitelefalangia tipo D, ipoplasia dei deltoidi, lieve accorciamento dei quarti e quinti metacarpi in alcuni pazienti, anomalie scheletriche a livello dell'omero, del radio, dell'ulna e delle ossa dell'eminenza tenar) e da aritmie cardiache (ritmi giunzionali e fibrillazione atriale)."},"nl":{"name":"Hart-handsyndroom type 2","synonyms":["Atriodigitale dysplasie type 2","Syndroom van Tabatznik"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door malformaties van bovenste ledematen (brachytelefalangie type D, hypoplastische musculus deltoideus, milde verkorting van vierde en vijfde metacarpalen bij sommige individuen, skeletanomalieën in humerus, radius, ulna, en thenar) en hartritmestoornissen (junctioneel ritme en atriumfibrillatie). Sinds 1990 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome coração-mão tipo 2","synonyms":["Síndrome Tabatznik"],"definition":"Síndrome dismórfica/anomalias congénitas múltiplas rara caracterizada por malformações dos membros superiores (braquitelefalangia tipo D, deltoides hipoplásicos, encurtamento ligeiro do quarto e quinto metacarpos em alguns doentes, anomalias esqueléticas no úmero, rádio, cúbito e ossos tenares) e arritmias cardíacas (ritmos juncionais e fibrilhação auricular). Não existem descrições adicionais na literatura desde 1990."},"pl":{"name":"Zespół serce–ręka typu 2","synonyms":["Dysplazja przedsionkowo-palcowa typu 2","Zespół Tabatznika"],"definition":"Rzadki zespół mnogich wad wrodzonych / zespół dysmorficzny, który charakteryzuje się wadami rozwojowymi kończyn górnych (brachytelefalangia typu D, hipoplastyczne mięśnie naramienne, łagodne skrócenie czwartej i piątej kości śródręcza u niektórych osób, wady kości ramiennej, promieniowej, łokciowej i kłębu) oraz zaburzeniami rytmu serca (rytmy węzłowe i migotanie przedsionków). Od 1990 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Syndrom ruka-srdce, typ 2","synonyms":["Atriodigitální dysplázie, typ 2","Tabatznikův syndrom"]},"uk":{"name":"Синдром серце-рука, тип 2","synonyms":["Атріодигітальна дисплазія 2 типу","Синдром Табачника"],"definition":"Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)."},"zh":{"name":"心-手综合征2型","synonyms":["心房指发育不全2型"]},"tr":{"name":"Kalp-el sendromu tip 2","synonyms":["Tabatznik sendromu","Atriodijital displazi tip 2"]}},"xrefs":[{"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":"2111612055"},{"source":"MONDO","code":"0015284","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536784","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931323","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9847","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":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1976459[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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003043","label":"Abnormality of the shoulder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010044","label":"Short 4th metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010047","label":"Short 5th metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009908","label":"Anterior creases of earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001555","label":"Asymmetry of the thorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100556","label":"Hemiatrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Occasional (29-5%)","criteria":null}]}}