{"id":70827,"date":"2017-03-31T12:49:31","date_gmt":"2017-03-31T12:49:31","guid":{"rendered":"http:\/\/humanitasnet-new.local\/malattie\/sindromul-stickler\/"},"modified":"2025-01-13T02:49:24","modified_gmt":"2025-01-13T02:49:24","slug":"sindromul-stickler","status":"publish","type":"disease","link":"https:\/\/humanitas-net.humweb.webiz.team\/ro\/diseases\/sindromul-stickler\/","title":{"rendered":"Sindromul Stickler"},"content":{"rendered":"<h2 id=\"sindromul-stickler\">Sindromul Stickler<\/h2>\n<p>&nbsp;<\/p>\n<p>Sindromul Stickler este o stare genetic\u0103 progresiv\u0103, transmis\u0103 de la p\u0103rinte al copil. Acesta este de obicei diagnosticat &icirc;n perioada infant\u0103\/copil\u0103rie. Sindromul Stickler este caracterizat de anomalii ale ochilor, aparen\u0163e faciale (oase subdezvoltate la mijlocul fe\u0163ei), palat despicat, falca de jos mic\u0103 \u015fi probleme de articula\u0163ii.<\/p>\n<p>Aceast\u0103 stare afecteaz\u0103 \u0163esutul conjunctiv al corpului (colagenul). Genele care controleaz\u0103 sinteza colagenului \u015fi care pot cauza acest sindrom sunt:<\/p>\n<p>COL2A1 &ndash; &icirc;n 75% din cazuri \u015fi mai mult este clasificat drept Sindromul Stickler de tip 1<\/p>\n<p>COL11A1 &ndash; poate afecta articula\u0163iile, auzul, vederea; cunoscut ca Sindromul Stickler de tip 2<\/p>\n<p>COL11A2 &ndash; afecteaz\u0103 numai articula\u0163iile \u015fi auzul; cunoscut ca dislpazia Oto-spondilo-megaepifizial\u0103<\/p>\n<p>Mai exist\u0103 \u015fi alte dou\u0103 gene COL9A1 \u015fi COL9A2 cunoscute ca sindromul Stickler de tip 4 \u015fi 5.<\/p>\n<p>Acest sindrom poate afecta ambele sexe.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"simptome\">Simptome<\/h2>\n<p>Simptomele sindromului Stickler sunt:<\/p>\n<p>Probleme cu ochii, cum ar fi miopia, glaucomul, cataracta, deta\u015farea retinal\u0103<\/p>\n<p>Probleme cu auzul &ndash; cele mai multe afect&acirc;nd auzul de &icirc;nalt\u0103 frecven\u0163\u0103<\/p>\n<p>Anomalii ale oaselor \u015fi articula\u0163iilor &ndash; ace\u015fti pacien\u0163i au articula\u0163ii flexibile, pot dezvolta scolioz\u0103<\/p>\n<p>Articula\u0163ii rigide<\/p>\n<p>Boal\u0103 de articula\u0163ii timpurie ce conduce la osteoartrit\u0103 mai t&acirc;rziu<\/p>\n<p>Falca de jos mai mic\u0103<\/p>\n<p>Fa\u0163\u0103 plat\u0103, nas smic, punte nazal\u0103 mic\u0103 sau inexistent\u0103<\/p>\n<p>Prolapsul valvei mitrale<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"cauze\">Cauze<\/h2>\n<p>Cauza sinfromului Stickler este muta\u0163ia unor gene colagene, mo\u015ftenite de la p\u0103rin\u0163ii afecta\u0163i, cel mai adesea genele colagene care produc cartilajele articula\u0163iilor \u015fi gelatina vitroas\u0103 din ochi.<\/p>\n<p>Foarte rare sunt cazurile c&acirc;nd sindromul apare f\u0103r\u0103 ca un p\u0103rinte s\u0103 fi fost afectat. &Icirc;n acest caz, cauza este o muta\u0163ie accidental\u0103 a genelor.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"factori-de-risc\">Factori de risc<\/h2>\n<p>Riscul apari\u0163iei sindromului Stickler este dac\u0103 unul din p\u0103rin\u0163i a fost afectat.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"complicatii\">Complica\u0163ii<\/h2>\n<p>Complica\u0163iile sindromului Stickler sunt:<\/p>\n<p>Posibile dificult\u0103\u0163i de hr\u0103nire dac\u0103 copilul este n\u0103scut cu palatul despicat<\/p>\n<p>Probleme dentale dac\u0103 exist\u0103 o falc\u0103 mai mic\u0103<\/p>\n<p>Infec\u0163ii ale urechii<\/p>\n<p>Orbire, &icirc;n caz de glaucom sau cataract\u0103<\/p>\n<p>Probleme ale inimii.<\/p>\n","protected":false},"featured_media":0,"template":"","class_list":["post-70827","disease","type-disease","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.3 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Sindromul Stickler - Humanitas.net<\/title>\n<meta name=\"robots\" content=\"noindex, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<meta property=\"og:locale\" content=\"ro_RO\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Sindromul Stickler - Humanitas.net\" \/>\n<meta property=\"og:description\" content=\"Sindromul Stickler &nbsp; Sindromul Stickler este o stare genetic\u0103 progresiv\u0103, transmis\u0103 de la p\u0103rinte al copil. 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Acesta este de obicei diagnosticat &icirc;n perioada infant\u0103\/copil\u0103rie. Sindromul Stickler este caracterizat de anomalii ale ochilor, aparen\u0163e faciale (oase subdezvoltate la mijlocul fe\u0163ei), palat despicat, falca de jos mic\u0103 \u015fi probleme de articula\u0163ii. 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