{"orpha":65282,"name":"Carvajal syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["KWWH type II","Keratoderma with woolly hair type II","Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome","Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome","Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome","Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome"],"definition":"A rare genetic ectodermal dysplasia syndrome characterized by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65282/","orphanet_url":"https://www.orpha.net/en/disease/detail/65282","names":{"fr":{"name":"Syndrome de Carvajal","synonyms":["KWWH type II","Syndrome de cheveux laineux-hyperkératose palmoplantaire-cardiomyopathie dilatée","Syndrome de cheveux laineux-kératodermie palmoplantaire-cardiomyopathie dilatée"],"definition":"Syndrome de dysplasie ectodermique rare, d'origine génétique, caractérisé par des cheveux laineux (dès la naissance), une kératodermie palmoplantaire (se développant au cours de la première année de vie) et une cardiomyopathie dilatée affectant principalement le ventricule gauche (se développant pendant l'enfance), pouvant évoluer vers une insuffisance cardiaque engageant le pronostic vital pendant l'enfance ou l'adolescence."},"de":{"name":"Carvajal-Syndrom","synonyms":["KWWH Typ II","Keratoderm mit Wollhaaren Typ II","Wollhaar-palmoplantare Hyperkeratose-dilatative Kardiomyopathie-Syndrom","Wollhaare-Palmoplantarkeratose-dilatative Kardiomyopathie-Syndrom"],"definition":"Ein seltenes Syndrom aus der Gruppe der Ektodermalen Dysplasien, das durch wolliges Haar (bei der Geburt), Palmoplantarkeratosen (im ersten Lebensjahr) und dilatative Kardiomyopathie mit überwiegender Beteiligung des linken Ventrikels (in der Kindheit) gekennzeichnet ist, was zu lebensbedrohlichem Herzversagen im Kindes- oder Jugendalter führen kann."},"es":{"name":"Síndrome de Carvajal","synonyms":["KWWH tipo II","Queratodermia con cabello lanoso tipo II","Síndrome de cabello lanoso-hiperqueratosis palmoplantar-miocardiopatía dilatada","Síndrome de cabello lanoso-queratodermia palmoplantar-miocardiopatía dilatada"],"definition":"Es un síndrome poco frecuente de displasia ectodérmica de origen genético caracterizado por cabello lanoso (presente al nacimiento), queratodermia palmoplantar (que se desarrolla en el primer año de vida) y miocardiopatía dilatada con afectación predominante del ventrículo izquierdo (de desarrollo en la infancia) que puede provocar insuficiencia cardíaca potencialmente mortal en la infancia o la adolescencia."},"it":{"name":"Sindrome di Carvajal","synonyms":["Capelli lanosi - cheratoderma palmoplantare - cardiomiopatia dilatativa","Sindrome capelli lanosi-cheratoderma palmoplantare-cardiomiopatia dilatativa","Sindrome capelli lanosi-ipercheratosi palmoplantare-cardiomiopatia dilatativa"]},"nl":{"name":"Syndroom van Carvajal","synonyms":["KWWH type II","Keratodermie met wollig haar type II","Wollig haar - palmoplantaire hyperkeratose - gedilateerde cardiomyopathie-syndroom","Wollig haar - palmoplantaire keratodermie - gedilateerde cardiomyopathie-syndroom"],"definition":"Een zeldzaam, genetisch syndroom van ectodermale dysplasie, gekenmerkt door wollig haar (aanwezig bij de geboorte), palmoplantaire keratodermie (die zich ontwikkelt in het eerste levensjaar) en gedilateerde cardiomyopathie met vooral betrokkenheid van linkerventrikel (die zich ontwikkelt in de kindertijd) die kan leiden tot levensbedreigend hartfalen in de kindertijd of adolescentie."},"pt":{"name":"Síndrome Carvajal","synonyms":["Síndrome do cabelo lanoso-hiperqueratose palmo-plantar-miocardiopatia dilatada","Síndrome do cabelo lanoso-queratodermia palmo-plantar-miocardiopatia dilatada"],"definition":"Síndrome genética rara de displasia ectodérmica caracterizada por cabelo lanoso (que se apresenta à nascença), queratodermia palmoplantar (que se desenvolve no primeiro ano de vida) e cardiomiopatia dilatada com envolvimento predominante do ventrículo esquerdo (que se desenvolve na infância), que pode levar a insuficiência cardíaca potencialmente fatal na infância ou na adolescência."},"pl":{"name":"Zespół włosy wełniste-rogowiec dłoni i stóp-kardiomiopatia rozstrzeniowa","synonyms":["Włosy wełniste - hiperkeratoza dłoni i stóp - kardiomiopatia rozstrzeniowa","Włosy wełniste - rogowiec dłoni i stóp - kardiomiopatia rozstrzeniowa","Zespół Carvajala","Zespół włosy wełniste-hiperkeratoza dłoni i stóp-kardiomiopatia rozstrzeniowa"],"definition":"Rzadka genetycznie uwarunkowana dysplazja ektodermalna charakteryzujący się wełnistymi włosami (widocznymi już przy urodzeniu), rogowaceniem dłoniowo-podeszwowym (rozwijającym się w pierwszym roku życia) i kardiomiopatią rozstrzeniową z dominującym zajęciem lewej komory (rozwijającą się w dzieciństwie), co może prowadzić do zagrażającej życiu niewydolności serca w okresie dzieciństwa lub dorastania."},"cs":{"name":"Carvajalův syndrom","synonyms":["KWWH typ II","Keratoderma s vlnitými vlasy, typ II","Syndrom zahrnující vlnité vlasy, palmoplantární keratoderma a dilatační kardiomyopatii"]},"uk":{"name":"Синдром Карвахаля","synonyms":["Кератодермія з вовняним волоссям II типу","KWWH тип II","Синдром шерстяного волосся-долонно-підошовного гіперкератозу-дилатаційної кардіоміопатії","Синдром шерстяного волосся-пальмоплантарної кератодермії та дилатаційної кардіоміопатії","Синдром шерстяного волосся-пальмоплантарного гіперкератозу-дилатаційної кардіоміопатії","Синдром шерстяного волосся-пальмоплантарної кератодермії та дилатаційної кардіоміопатії"],"definition":"A rare genetic ectodermal dysplasia syndrome characterized by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence."},"zh":{"name":"Carvajal综合征","synonyms":["羊毛状发-掌跖角化过度-扩张性心肌病综合征"]},"tr":{"name":"Carvajal sendromu","synonyms":["KWWH tip II","Yünlü saç tipi II ile keratoderma","Kıllı saç-palmoplantar keratoderma-dilate kardiyomiyopati sendromu","Kıllı saç-palmoplantar keratoderma-dilate kardiyomiyopati sendromu","Kıllı saç-palmoplantar hiperkeratoz-dilate kardiyomiyopati sendromu","Yünlü saç-palmoplantar hiperkeratoz-dilate kardiyomiyopati sendromu"]}},"xrefs":[{"source":"OMIM","code":"605676","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615821","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I42.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC43.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"794833082"},{"source":"MONDO","code":"0011581","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11581","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535581","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854063","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5595","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":98357,"name":"Autosomal recessive disease with focal palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]},{"orpha":217619,"name":"Syndrome associated with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":434809,"name":"Syndrome with woolly hair","classifications":[156,187]}],"children":[],"genes":[{"symbol":"DSP","name":"desmoplakin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11063735[PMID]","hgnc":"3052","ensembl":"ENSG00000096696","omim":"125647","loci":["6p24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"22795705[PMID]_20940358[PMID]_16628197[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22795705[PMID]_20940358[PMID]_16628197[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005588","label":"Patchy palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002224","label":"Woolly hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null}]}}