{"orpha":65283,"name":"Timothy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["LQT8","Long QT syndrome type 8","Long QT syndrome-syndactyly syndrome"],"definition":"A rare multiple congenital anomalies syndrome with cardiac involvement as a major feature characterized by QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes recognized, the classical types that present with a prolonged QT interval and either with (TS1) or without (TS2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65283/","orphanet_url":"https://www.orpha.net/en/disease/detail/65283","names":{"fr":{"name":"Syndrome de Timothy","synonyms":["LQT8","Syndrome du QT long type 8","Syndrome du QT long-syndactylie"],"definition":"Syndrome rare d'anomalies congénitales multiples ayant pour principale caractéristique une atteinte cardiaque, caractérisé par un allongement de l'intervalle QT, des anomalies cardiaques congénitales, une syndactylie, une dysmorphie faciale et des troubles neurodéveloppementaux. On distingue trois phénotypes cliniques, les types classiques qui se présentent avec un intervalle QT prolongé et se présentant avec (TS1) ou sans (TS2) syndactylie cutanée des doigts et des orteils. La forme atypique (ATS) entraîne des atteintes multisystémiques, mais pas nécessairement un allongement de l'intervalle QT."},"de":{"name":"Timothy-Syndrom","synonyms":["LQT8","Long-QT-Syndrom - Syndaktylie","Long-QT-Syndrom Typ 8"],"definition":"Ein seltenes Syndrom multipler kongenitaler Anomalien mit kardialer Beteiligung als Hauptmerkmal, gekennzeichnet durch QT-Verlängerung, kongenitale Herzfehler, Syndaktylie, Gesichtsdysmorphien und neurologische Entwicklungsmerkmale. Es werden drei klinische Phänotypen unterschieden: die klassische Form mit verlängertem QT-Intervall und entweder mit (TS1) oder ohne (TS2) kutane Syndaktylie der Finger und Zehen. Die atypische Form (ATS) verursacht Gesundheitsprobleme in mehreren Systemen, aber nicht unbedingt mit verlängertem QT-Intervall."},"es":{"name":"Síndrome de Timothy","synonyms":["LQT8","Síndrome de QT largo tipo 8","Síndrome de QT largo-sindactilia"],"definition":"Es un trastorno poco frecuente con múltiples anomalías congénitas y afectación cardíaca con prolongación del intervalo QT como característica principal, defectos cardíacos congénitos, sindactilia, dismorfia facial y trastornos del neurodesarrollo. Se reconocen tres fenotipos clínicos: los tipos clásicos que se presentan con un intervalo QT prolongado y con (TS1) o sin (TS2) sindactilia cutánea de los dedos de manos y pies. La forma atípica (ATS) tiene presentación multisistémica pero no necesariamente asocia QT prolongado."},"it":{"name":"Sindrome di Timothy","synonyms":["LQT8","Sindrome del QT lungo - sindattilia","Sindrome del QT lungo, tipo 8"],"definition":"La sindrome di Timothy (TS) è una malattia rara da anomalie congenite multiple con interessamento cardiaco, caratterizzata da allungamento dell'intervallo QT, cardiopatie congenite, sindattilia, dismorfismi facciali e anomalie del neurosviluppo. Si distinguono tre fenotipi clinici: il fenotipo classico caratterizzato da un intervallo QT allungato, con (TS1) o senza (TS2) sindattilia cutanea delle mani e dei piedi. La forma atipica (ATS) si associa a ad anomalie multisistemiche ma non necessariamente all'allungamento dell'intervallo QT."},"nl":{"name":"Syndroom van Timothy","synonyms":["LQT8","Lang-QT-syndroom - syndactylie-syndroom","Lang-QT-syndroom type 8"],"definition":"Een zeldzaam syndroom van multipele congenitale anomalieën met betrokkenheid van hart als hoofdkenmerk, gekarakteriseerd door verlengd QT-interval, congenitale hartdefecten, syndactylie, faciale dysmorfie, en neurologische ontwikkelingsdefecten. Er worden drie klinische fenotypes onderscheiden, waaronder de twee klassieke types die zich presenteren met een verlengd QT-interval en ofwel met (TS1) ofwel zonder (TS2) cutane syndactylie van vingers en tenen. De atypische vorm (ATS) veroorzaakt multisystemische gezondheidsproblemen, maar niet per se met verlengd QT-interval."},"pt":{"name":"Síndrome Timothy","synonyms":["LQT8","Síndrome QT longo-sindactilia","Síndrome de QT longo tipo 8"]},"pl":{"name":"Zespół Timothy'ego","synonyms":["LQT8","Zespół wydłużonego QT - syndaktylia","Zespół wydłużonego QT typu 8"]},"cs":{"name":"Timothyové syndrom","synonyms":["LQTS8","Syndrom dlouhého QT intervalu, typ 8","Syndrom zahrnující dlouhý QT interval a syndaktylii"]},"uk":{"name":"Синдром Тімоті","synonyms":["Синдром подовженого інтервалу QT, тип 8","Синдром подовженого інтервалу QT-синдром синдактилії","LQT8"],"definition":"A rare, multiple congenital anomalies syndrome with cardiac involvement as a major feature characterized by QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes recognized, the classical types that present with a prolonged QT interval and either with (TS1) or without (TS2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT."},"zh":{"name":"Timothy综合征","synonyms":["长QT综合征-并指（趾）综合征"]},"tr":{"name":"Timothy sendromu","synonyms":["LQT8","Uzun QT sendromu tip 8","Uzun QT sendromu-sindaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"601005","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"618447","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I49.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC65.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1501560837"},{"source":"MONDO","code":"0010979","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536962","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832916","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9294","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079205","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":768,"name":"Congenital long QT syndrome","classifications":[146,156]},{"orpha":180772,"name":"Rare disease with autism","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":595109,"name":"Atypical Timothy syndrome","type":"Clinical subtype"},{"orpha":595098,"name":"Timothy syndrome type 1","type":"Clinical subtype"},{"orpha":595105,"name":"Timothy syndrome type 2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CACNA1C","name":"calcium voltage-gated channel subunit alpha1 C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15454078[PMID]","hgnc":"1390","ensembl":"ENSG00000151067","omim":"114205","loci":["12p13.33"],"via":{"orpha":595098,"name":"Timothy syndrome type 1"}},{"symbol":"CACNA1C","name":"calcium voltage-gated channel subunit alpha1 C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34079780[PMID]","hgnc":"1390","ensembl":"ENSG00000151067","omim":"114205","loci":["12p13.33"],"via":{"orpha":595105,"name":"Timothy syndrome type 2"}},{"symbol":"CACNA1C","name":"calcium voltage-gated channel subunit alpha1 C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34079780[PMID]","hgnc":"1390","ensembl":"ENSG00000151067","omim":"114205","loci":["12p13.33"],"via":{"orpha":595109,"name":"Atypical Timothy syndrome"}}],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":56.0,"area":"Worldwide","status":"Validated","source":"33987151[PMID]_34079780[PMID]_34844894[PMID]_36336572[PMID]_36347939[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}