{"id":7311,"date":"2025-03-25T13:58:44","date_gmt":"2025-03-25T12:58:44","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=resources&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 on Diagnosis & Management of ARID1B Associated Coffin-Siris Syndrome"},"content":{"rendered":"

Coffin-Siris syndrome<\/strong> (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 ARID1B, a component of the BAF chromatin remodelling complex, as the main cause of the syndrome, our knowledge on diagnosis, natural history and management have greatly improved. In this webinar we aim to explore these recent developments.<\/p>\n\n\n\n

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Program<\/h2>\n\n\n\n

Welcome and Introduction <\/strong>\u2013 (5.00-5.05 pm)<\/p>\n\n\n\n

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  • Speaker\u202f: Andr\u00e9 Reis<\/li>\n\n\n\n
  • From\u202f: University Hospital Erlangen, Erlangen, Germany<\/li>\n<\/ul>\n\n\n\n

    Clinical and molecular diagnosis in children<\/strong><\/p>\n\n\n\n

      \n
    • Speaker\u202f: Georgia Vasileiou<\/li>\n\n\n\n
    • From\u202f: University Hospital Erlangen, Erlangen, Germany<\/li>\n<\/ul>\n\n\n\n

      ARID1B-related disorder in adults<\/strong><\/p>\n\n\n\n

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      • Speaker\u202f: Gijs Santen<\/li>\n\n\n\n
      • From\u202f: Leiden University Medical Center, Leiden, The Netherlands  <\/li>\n<\/ul>\n\n\n\n

        CARE4ARID1B<\/strong><\/p>\n\n\n\n

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        • Speaker\u202f:  Dagmar Wieczorek<\/li>\n\n\n\n
        • From\u202f: Medical Faculty and University Hospital, D\u00fcsseldorf, Germany <\/li>\n<\/ul>\n\n\n\n

          The patient\u2019s perspective<\/strong><\/p>\n\n\n\n

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          • Speaker\u202f: Gal Lazarus, Ph.D.<\/li>\n\n\n\n
          • From\u202f: Department of Psychology, The Hebrew University of Jerusalem, Israel<\/li>\n<\/ul>\n\n\n\n

            Discussion time <\/em><\/p>\n\n\n\n

            <\/div>\n\n\n\n

            Recording<\/h2>\n\n\n\n
            \n