{"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\/fr\/education\/documentation-for-patients\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\/","title":{"rendered":"Webinaire ERN-ITHACA sur le diagnostic et la prise en charge du syndrome de Coffin-Siris associ\u00e9 au g\u00e8ne ARID1B"},"content":{"rendered":"<p class=\"wp-block-paragraph\"><strong>Syndrome de Coffin-Siris<\/strong>&nbsp;(CSS) est un syndrome relativement fr\u00e9quent associ\u00e9 \u00e0 un retard de d\u00e9veloppement ou cognitif, caract\u00e9ris\u00e9 classiquement par des ongles petits ou absents, ainsi qu\u2019une apparence faciale distinctive, parmi plusieurs autres signes. Depuis la d\u00e9couverte de mutations dans le g\u00e8ne ARID1B, un composant du complexe de remodelage de la chromatine BAF, comme cause principale du syndrome, nos connaissances en mati\u00e8re de diagnostic, d\u2019\u00e9volution naturelle et de prise en charge se sont consid\u00e9rablement am\u00e9lior\u00e9es. Dans ce webinaire, nous souhaitons explorer ces avanc\u00e9es r\u00e9centes.<\/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\">Programme<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Bienvenue et pr\u00e9sentation&nbsp;<\/strong>\u2013 (17 h 00 \u2013 17 h 05)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Intervenant : Andr\u00e9 Reis<\/li>\n\n\n\n<li>De : H\u00f4pital universitaire d'Erlangen, Erlangen, Allemagne<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Diagnostic clinique et mol\u00e9culaire chez l'enfant<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Intervenante : Georgia Vasileiou<\/li>\n\n\n\n<li>De : H\u00f4pital universitaire d'Erlangen, Erlangen, Allemagne<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Maladie li\u00e9e au g\u00e8ne ARID1B chez l'adulte<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Intervenant : Gijs Santen<\/li>\n\n\n\n<li>Source : Centre m\u00e9dical universitaire de Leyde, Leyde, Pays-Bas&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>Intervenante : Dagmar Wieczorek<\/li>\n\n\n\n<li>Source : Facult\u00e9 de m\u00e9decine et H\u00f4pital universitaire de D\u00fcsseldorf, Allemagne&nbsp;<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Le point de vue du patient<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Conf\u00e9rencier : Gal Lazarus, docteur \u00e8s sciences.<\/li>\n\n\n\n<li>De : D\u00e9partement de psychologie, Universit\u00e9 h\u00e9bra\u00efque de J\u00e9rusalem, Isra\u00ebl<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><em>Temps r\u00e9serv\u00e9 \u00e0 la discussion&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\">Enregistrement<\/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=\"Webinaire ERN-ITHACA sur le diagnostic et la prise en charge du syndrome de Coffin-Siris associ\u00e9 au g\u00e8ne ARID1B\" 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\">Vous pouvez consulter la pr\u00e9sentation PowerPoint du webinaire <a href=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2025\/03\/PPT_FINAL_2025-Webinar-Webinar_-ARID1B-Associated-Coffin-Siris-Syndrome.pdf\">ICI<\/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 v28.7 - 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\/fr\/education\/documentation-for-patients\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\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. 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;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ern-ithaca.eu\/fr\/education\/documentation-for-patients\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"ERN ITHACA\" \/>\n<meta property=\"article:modified_time\" content=\"2026-05-19T11:22:28+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2025\/03\/Capture-decran-2025-03-25-135947.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1129\" \/>\n\t<meta property=\"og:image:height\" content=\"624\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:site\" content=\"@ERNIthaca\" \/>\n<meta name=\"twitter:label1\" content=\"Dur\u00e9e de lecture estim\u00e9e\" \/>\n\t<meta name=\"twitter:data1\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/education\\\/documentation-for-patients\\\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/education\\\/documentation-for-patients\\\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\\\/\",\"name\":\"ERN-ITHACA Webinar on Diagnosis &amp; Management of ARID1B Associated Coffin-Siris Syndrome - ERN ITHACA\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/education\\\/documentation-for-patients\\\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/education\\\/documentation-for-patients\\\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2025\\\/03\\\/Capture-decran-2025-03-25-135947.png\",\"datePublished\":\"2025-03-25T12:58:44+00:00\",\"dateModified\":\"2026-05-19T11:22:28+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/education\\\/documentation-for-patients\\\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\\\/#breadcrumb\"},\"inLanguage\":\"fr-FR\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/ern-ithaca.eu\\\/education\\\/documentation-for-patients\\\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"fr-FR\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/education\\\/documentation-for-patients\\\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\\\/#primaryimage\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2025\\\/03\\\/Capture-decran-2025-03-25-135947.png\",\"contentUrl\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2025\\\/03\\\/Capture-decran-2025-03-25-135947.png\",\"width\":1129,\"height\":624},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/education\\\/documentation-for-patients\\\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Documentation > Educational Videos\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/education\\\/documentation-for-patients\\\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"ERN-ITHACA Webinar on Diagnosis &amp; Management of ARID1B Associated Coffin-Siris Syndrome\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"name\":\"ERN ITHACA\",\"description\":\"WELCOME TO ERN-ITHACA WEBSITE!\",\"publisher\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/ern-ithaca.eu\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"fr-FR\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\",\"name\":\"ERN-ITHACA\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"fr-FR\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Logo-ERN-ITHACA.jpg\",\"contentUrl\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Logo-ERN-ITHACA.jpg\",\"width\":454,\"height\":172,\"caption\":\"ERN-ITHACA\"},\"image\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#\\\/schema\\\/logo\\\/image\\\/\"},\"sameAs\":[\"https:\\\/\\\/x.com\\\/ERNIthaca\",\"https:\\\/\\\/www.linkedin.com\\\/company\\\/ithaca-european-reference-network-on-congenital-malformations-ans-rare-intellectual-disability\\\/?viewAsMember=true\"]}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"ERN-ITHACA Webinar on Diagnosis &amp; Management of ARID1B Associated Coffin-Siris Syndrome - ERN ITHACA","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/ern-ithaca.eu\/fr\/education\/documentation-for-patients\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\/","og_locale":"fr_FR","og_type":"article","og_title":"ERN-ITHACA Webinar on Diagnosis &amp; Management of ARID1B Associated Coffin-Siris Syndrome - ERN ITHACA","og_description":"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;]","og_url":"https:\/\/ern-ithaca.eu\/fr\/education\/documentation-for-patients\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\/","og_site_name":"ERN ITHACA","article_modified_time":"2026-05-19T11:22:28+00:00","og_image":[{"width":1129,"height":624,"url":"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2025\/03\/Capture-decran-2025-03-25-135947.png","type":"image\/png"}],"twitter_card":"summary_large_image","twitter_site":"@ERNIthaca","twitter_misc":{"Dur\u00e9e de lecture estim\u00e9e":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/ern-ithaca.eu\/education\/documentation-for-patients\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\/","url":"https:\/\/ern-ithaca.eu\/education\/documentation-for-patients\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\/","name":"ERN-ITHACA Webinar on Diagnosis &amp; Management of ARID1B Associated Coffin-Siris Syndrome - ERN ITHACA","isPartOf":{"@id":"https:\/\/ern-ithaca.eu\/#website"},"primaryImageOfPage":{"@id":"https:\/\/ern-ithaca.eu\/education\/documentation-for-patients\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\/#primaryimage"},"image":{"@id":"https:\/\/ern-ithaca.eu\/education\/documentation-for-patients\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\/#primaryimage"},"thumbnailUrl":"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2025\/03\/Capture-decran-2025-03-25-135947.png","datePublished":"2025-03-25T12:58:44+00:00","dateModified":"2026-05-19T11:22:28+00:00","breadcrumb":{"@id":"https:\/\/ern-ithaca.eu\/education\/documentation-for-patients\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\/#breadcrumb"},"inLanguage":"fr-FR","potentialAction":[{"@type":"ReadAction","target":["https:\/\/ern-ithaca.eu\/education\/documentation-for-patients\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\/"]}]},{"@type":"ImageObject","inLanguage":"fr-FR","@id":"https:\/\/ern-ithaca.eu\/education\/documentation-for-patients\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\/#primaryimage","url":"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2025\/03\/Capture-decran-2025-03-25-135947.png","contentUrl":"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2025\/03\/Capture-decran-2025-03-25-135947.png","width":1129,"height":624},{"@type":"BreadcrumbList","@id":"https:\/\/ern-ithaca.eu\/education\/documentation-for-patients\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/ern-ithaca.eu\/"},{"@type":"ListItem","position":2,"name":"Documentation > Educational Videos","item":"https:\/\/ern-ithaca.eu\/education\/documentation-for-patients\/"},{"@type":"ListItem","position":3,"name":"ERN-ITHACA Webinar on Diagnosis &amp; Management of ARID1B Associated Coffin-Siris Syndrome"}]},{"@type":"WebSite","@id":"https:\/\/ern-ithaca.eu\/#website","url":"https:\/\/ern-ithaca.eu\/","name":"ERN ITHACA","description":"WELCOME TO ERN-ITHACA WEBSITE!","publisher":{"@id":"https:\/\/ern-ithaca.eu\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/ern-ithaca.eu\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"fr-FR"},{"@type":"Organization","@id":"https:\/\/ern-ithaca.eu\/#organization","name":"ERN-ITHACA","url":"https:\/\/ern-ithaca.eu\/","logo":{"@type":"ImageObject","inLanguage":"fr-FR","@id":"https:\/\/ern-ithaca.eu\/#\/schema\/logo\/image\/","url":"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Logo-ERN-ITHACA.jpg","contentUrl":"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Logo-ERN-ITHACA.jpg","width":454,"height":172,"caption":"ERN-ITHACA"},"image":{"@id":"https:\/\/ern-ithaca.eu\/#\/schema\/logo\/image\/"},"sameAs":["https:\/\/x.com\/ERNIthaca","https:\/\/www.linkedin.com\/company\/ithaca-european-reference-network-on-congenital-malformations-ans-rare-intellectual-disability\/?viewAsMember=true"]}]}},"_links":{"self":[{"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/resources\/7311","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/resources"}],"about":[{"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/types\/resources"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/media\/7313"}],"wp:attachment":[{"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/media?parent=7311"}],"wp:term":[{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/tags?post=7311"},{"taxonomy":"resources-type","embeddable":true,"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/resources-type?post=7311"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}