{"id":7311,"date":"2025-03-25T13:58:44","date_gmt":"2025-03-25T12:58:44","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=resources&#038;p=7311"},"modified":"2026-05-19T13:22:28","modified_gmt":"2026-05-19T11:22:28","slug":"ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome","status":"publish","type":"resources","link":"https:\/\/ern-ithaca.eu\/de\/education\/documentation-for-patients\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\/","title":{"rendered":"ERN-ITHACA-Webinar zur Diagnose und Behandlung des ARID1B-assoziierten Coffin-Siris-Syndroms"},"content":{"rendered":"<p class=\"wp-block-paragraph\"><strong>Coffin-Siris-Syndrom<\/strong>&nbsp;(CSS) ist ein relativ h\u00e4ufig auftretendes Syndrom mit Entwicklungs- oder kognitiven Verz\u00f6gerungen, das klassischerweise durch kleine oder fehlende Fingern\u00e4gel sowie ein charakteristisches Gesichtsbild und verschiedene weitere Merkmale gekennzeichnet ist. Seit der Entdeckung von Mutationen im ARID1B-Gen, einem Bestandteil des BAF-Chromatin-Remodellierungskomplexes, als Hauptursache des Syndroms haben sich unsere Kenntnisse \u00fcber Diagnose, Krankheitsverlauf und Behandlung erheblich verbessert. In diesem Webinar m\u00f6chten wir diese j\u00fcngsten Entwicklungen beleuchten.<\/p>\n\n\n\n<div style=\"height:50px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Programm<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Begr\u00fc\u00dfung und Einf\u00fchrung&nbsp;<\/strong>\u2013 (17.00\u201317.05 Uhr)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Referent: Andr\u00e9 Reis<\/li>\n\n\n\n<li>Von: Universit\u00e4tsklinikum Erlangen, Erlangen, Deutschland<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Klinische und molekulare Diagnostik bei Kindern<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Referentin: Georgia Vasileiou<\/li>\n\n\n\n<li>Von: Universit\u00e4tsklinikum Erlangen, Erlangen, Deutschland<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>ARID1B-assoziierte Erkrankung bei Erwachsenen<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Referent: Gijs Santen<\/li>\n\n\n\n<li>Von: Medizinisches Zentrum der Universit\u00e4t Leiden, Leiden, Niederlande&nbsp;&nbsp;<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>CARE4ARID1B<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Referentin: Dagmar Wieczorek<\/li>\n\n\n\n<li>Von: Medizinische Fakult\u00e4t und Universit\u00e4tsklinikum D\u00fcsseldorf, Deutschland&nbsp;<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Die Perspektive des Patienten<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Referent: Dr. Gal Lazarus.<\/li>\n\n\n\n<li>Von: Fachbereich Psychologie, Hebr\u00e4ische Universit\u00e4t Jerusalem, Israel<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><em>Diskussionszeit&nbsp;<\/em><\/p>\n\n\n\n<div style=\"height:50px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Aufnahme<\/h2>\n\n\n\n<figure class=\"wp-block-embed is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-4-3 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\n<iframe loading=\"lazy\" title=\"ERN-ITHACA-Webinar zum Thema \u201eDiagnose und Behandlung des ARID1B-assoziierten Coffin-Siris-Syndroms\u201c\" width=\"640\" height=\"480\" src=\"https:\/\/www.youtube.com\/embed\/51N1Mwoy-so?feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe>\n<\/div><\/figure>\n\n\n\n<div style=\"height:50px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">PowerPoint<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Sie k\u00f6nnen die PowerPoint-Pr\u00e4sentation des Webinars einsehen <a href=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2025\/03\/PPT_FINAL_2025-Webinar-Webinar_-ARID1B-Associated-Coffin-Siris-Syndrome.pdf\">HIER<\/a>.<\/p>","protected":false},"excerpt":{"rendered":"<p>Coffin-Siris syndrome&nbsp;(CSS) is a relatively frequent syndrome with developmental or cognitive delay, classically characterized by small or missing nails,and distinctive facial appearance, among several other signs. Since the discovery of mutations in&nbsp;ARID1B, a component of the BAF chromatin remodelling complex, as the main cause of the syndrome, our knowledge on diagnosis, natural history and management [&hellip;]<\/p>\n","protected":false},"featured_media":7313,"template":"","tags":[],"resources-type":[17],"class_list":["post-7311","resources","type-resources","status-publish","has-post-thumbnail","hentry","resources-type-webinar"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>ERN-ITHACA Webinar on Diagnosis &amp; Management of ARID1B Associated Coffin-Siris Syndrome - ERN ITHACA<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ern-ithaca.eu\/de\/education\/documentation-for-patients\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA Webinar on Diagnosis &amp; Management of ARID1B Associated Coffin-Siris Syndrome - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Coffin-Siris syndrome&nbsp;(CSS) is a relatively frequent syndrome with developmental or cognitive delay, classically characterized by small or missing nails,and distinctive facial appearance, among several other signs. 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