{"orpha":1345,"name":"Cardiomyopathy-cataract-hip spine disease syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Krasnow-Qazi syndrome"],"definition":"A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1345/","orphanet_url":"https://www.orpha.net/en/disease/detail/1345","names":{"fr":{"name":"Syndrome de cardiomyopathie-cataracte-anomalies spondylo-pelviennes","synonyms":["Syndrome de Krasnow-Qazi"],"definition":"Triade rare : cardiomyopathie dilatée, cataracte précoce et maladie articulaire des hanches et de la colonne vertébrale, caractérisée par une dégénérescence articulaire de la hanche, des disques intervertébraux irréguliers et une platyspondylie. Les anomalies oculaires sont souvent les premiers signes à apparaître. Il n'y a pas eu de description ultérieure de la maladie dans la littérature depuis 1985."},"de":{"name":"Kardiomyopathie-Katarakt-Hüftwirbelsäulenerkrankung-Syndrom","synonyms":["Krasnow-Qazi-Syndrom"],"definition":"Eine seltene Trias aus dilatativer Kardiomyopathie, vorzeitigem Katarakt und Gelenkerkrankungen der Hüfte und Wirbelsäule, die durch Hüftgelenkdegeneration, unregelmäßige Bandscheiben und Platyspondylie gekennzeichnet ist. Die Augenanomalien sind oft die ersten Symptome, die auftreten. Seit 1985 gibt es in der Literatur keine weiteren Beschreibungen."},"es":{"name":"Síndrome de miocardiopatía-cataratas-enfermedad de la cadera y la columna vertebral","synonyms":["Síndrome de Krasnow-Qazi"],"definition":"Es una triada poco frecuente de miocardiopatía dilatada, cataratas prematuras, y enfermedad articular de las caderas y la columna vertebral, caracterizada por degeneración de la articulación de la cadera, discos intervertebrales irregulares y platispondilia. Las anomalías oculares son con frecuencia los primeros síntomas en aparecer. No ha habido descripciones posteriores en la literatura desde 1985."},"it":{"name":"Cardiomiopatia - cataratta - malattia spondilo-pelvica","synonyms":["Sindrome di Krasnow-Qazi"],"definition":"La cardiomiopatia-cataratta-malattia spondilo-pelvica è definita dalla triade estremamente rara che comprende la cardiomiopatia, la cataratta precoce e la malattia articolare delle anche e della colonna vertebrale, con degenerazione dell'articolazione dell'anca, irregolarità dei dischi intervertebrali e platispondilia. Le anomalie degli occhi rappresentano spesso i sintomi di esordio. Gli ultimi casi pubblicati risalgono al 1985."},"nl":{"name":"Cardiomyopathie - cataract - heup-wervelkolomziekte-syndroom","synonyms":["Syndroom van Krasnow-Qazi"],"definition":"Een zeldzame triade van gedilateerde cardiomyopathie, prematuur cataract, en articulaire ziekte van heup en wervelkolom, gekenmerkt door degeneratie van heupgewricht, onregelmatige tussenwervelschijven, en platyspondylie. Oogafwijkingen zijn vaak de eerste symptomen die verschijnen. Sinds 1985 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de miocardiopatia-catarata-doença da anca e da coluna vertebral","synonyms":["Síndrome Krasnow-Qazi"]},"pl":{"name":"Kardiomiopatia - zaćma - choroba biodra i kręgosłupa","synonyms":["Zespół Krasnowa i Qazi"],"definition":"Rzadka triada obejmująca kardiomiopatię rozstrzeniową, przedwczesną zaćmę oraz chorobę stawów biodrowych i kręgosłupa, charakteryzującą się zwyrodnieniem stawu biodrowego, nieregularnymi krążkami międzykręgowymi i płaskostopiem. Pierwszym objawem są często nieprawidłowości narządu wzroku. Od 1985 roku nie było dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující kardiomyopatii, kataraktu a onemocnění bederní páteře","synonyms":["Krasnowův-Qaziho syndrom","Krasnow-Qaziho syndrom"]},"uk":{"name":"Синдром кардіоміопатії - катаракти - патології хребта і тазостегнового суглоба","synonyms":["Синдром Краснова-Казі"],"definition":"A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985."},"zh":{"name":"心肌病-白内障-髋部脊柱疾病综合征","synonyms":["Krasnow-Qazi综合征"]},"tr":{"name":"Kardiyomiyopati-katarakt-kalça omurga hastalığı sendromu","synonyms":["Krasnow-Qazi sendromu"]}},"xrefs":[{"source":"ICD-10","code":"I42.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC43.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015282","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537616","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931548","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1102","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":217619,"name":"Syndrome associated with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"3965265[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3965265[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005108","label":"Abnormal intervertebral disk morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Occasional (29-5%)","criteria":null}]}}