{"orpha":101068,"name":"Congenital stromal corneal dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CSCD","Congenital hereditary stromal dystrophy","Witschel dystrophy"],"definition":"Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101068/","orphanet_url":"https://www.orpha.net/en/disease/detail/101068","names":{"fr":{"name":"Dystrophie cornéenne stromale congénitale","synonyms":["CSCD","Dystrophie de Witschel","Dystrophie stromale congénitale héréditaire"],"definition":"La dystrophie cornéenne stromale congénitale (DCSC) est une forme très rare de dystrophie cornéenne stromale caractérisée par une opacification floconneuse ou plumeuse du stroma cornéen et une perte modérée à sévère de la vision."},"de":{"name":"Hornhautdystrophie, stromale, kongenitale","synonyms":["CSCD","Witschel-Dystrophie"],"definition":"Die Kongenitale Stroma-Hornhautdystrophie (CSCD) ist eine extrem seltene Form der Stroma-Hornhautdystrophie (s. dort) und gekennzeichnet durch schuppige oder federförmige Trübung des Hornhautstromas und moderaten bis schweren Visusverlust."},"es":{"name":"Distrofia corneal estromal congénita","synonyms":["CSCD","Distrofia de Witschel","Distrofia estromal hereditaria congénita"],"definition":"La distrofia corneal estromal congenital (CSCD) es una forma muy rara de distrofia corneal estromal (consulte este término) caracterizada por opacidades opacas en forma de escamas o de pluma en el estroma corneal, y una pérdida de visión entre grave y moderada."},"it":{"name":"Distrofia corneale stromale congenita","synonyms":["CSCD","Distrofia di Witschel","Distrofia stromale ereditaria congenita"],"definition":"La distrofia corneale stromale congenita (CSCD) è una forma estremamente rara di distrofia corneale stromale (si veda questo termine), caratterizzata da annebbiamento a lamelle o a fiocchi dello stroma corneale e dalla perdita moderata-grave della vista."},"nl":{"name":"Congenitale stromale corneadystrofie","synonyms":["CSCD","Congenitale erfelijke stromale dystrofie","Congenitale stromale hoornvliesdystrofie","Dystrofie van Witschel"],"definition":"Congenitale stromale corneadystrofie (CSCD) is een uitermate zeldzame vorm van stromale corneadystrofie (zie deze term) gekenmerkt door opake vlokkige of veerachtige troebeling van het corneastroma, en matig tot ernstig visusverlies."},"pt":{"name":"Distrofia do estroma da córnea congénita","synonyms":["CSCD","Distrofia Witschel","Distrofia do estroma hereditária congénita"]},"pl":{"name":"Wrodzona dystrofia zrębu rogówki","synonyms":["CSCD","Dystrofia Witschela","Wrodzona dziedziczna dystrofia zrębu"]},"cs":{"name":"Vrozená stromální korneální dystrofie","synonyms":["CSCD","Witschelova dystrofie","Vrozená dědičná stromální dystrofie"]},"uk":{"name":"Вроджена стромальна дистрофія рогівки","synonyms":["Вроджена спадкова стромальна дистрофія","CSCD","Дистрофія Вітшеля"],"definition":"Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss."},"zh":{"name":"先天性角膜基质营养不良","synonyms":["先天性遗传性角膜基质营养不良"],"definition":"先天性基质层角膜营养不良(CSCD)是一种极为罕见的基质层角膜营养不良(见该词条)，其特征是角膜基质不透明、呈片状或羽毛状云雾，以及中到重度的视力丧失。"},"tr":{"name":"Doğumsal stromal kornea distrofisi","synonyms":["CSCD","Witschel distrofisi","Doğumsal kalıtsal stromal distrofi"]}},"xrefs":[{"source":"OMIM","code":"610048","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H18.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1796933876"},{"source":"MONDO","code":"0012401","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566452","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864738","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98626,"name":"Stromal corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"DCN","name":"decorin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15671264[PMID]_20301741[PMID]","hgnc":"2705","ensembl":"ENSG00000011465","omim":"125255","loci":["12q21.33"]},{"symbol":"SPARCL1","name":"SPARC like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"39169229[PMID]","hgnc":"11220","ensembl":"ENSG00000152583","omim":"606041","loci":["4q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"24413633[PMID]_20301741[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24413633[PMID]_20301741[PMID]"}],"phenotypes":null}