{"id":292,"date":"2022-02-07T16:32:38","date_gmt":"2022-02-07T15:32:38","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=292"},"modified":"2026-04-24T16:26:39","modified_gmt":"2026-04-24T14:26:39","slug":"ern-ithaca-innsbruck-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/it\/about-us\/expert-centers\/ern-ithaca-innsbruck-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centro di Innsbruck"},"content":{"rendered":"
\"\"<\/figure>\n\n\n\n


Universit\u00e0 di Medicina di Innsbruck<\/strong>
Anichstrasse 35
6020 Innsbruck
AUSTRIA<\/p>\n\n\n\n

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Sito web<\/a><\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n

Piombo<\/h2>\n\n\n\n
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<\/div>\n\n\n\n
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Dott.ssa Christine Fauth<\/strong><\/p>\n\n\n\n

Posta<\/strong>:\u00a0i-master@i-med.ac.at<\/a><\/p>\n\n\n\n

Tel.<\/strong>: +43 512 9003 \u2013 0
<\/p>\n<\/div>\n<\/div>\n\n\n\n

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Ambito di applicazione<\/h2>\n\n\n\n

L\u2019area di competenza del nostro Centro, in qualit\u00e0 di membro della Rete di Riferimento Europea (ERN) ITHACA, copre tutte le sindromi caratterizzate da anomalie dello sviluppo e\/o disabilit\u00e0 intellettiva (DI). Circa 1 neonato su 40 presenta una malformazione congenita (261 su 10.000 feti e neonati secondo i dati EuroCAt) e 1 su 40 presenta una disabilit\u00e0 intellettiva. Pertanto, da 3 a 5 % di tutte le nascite umane presentano o svilupperanno un\u2019anomalia dello sviluppo, tra cui almeno 25-50% sono di origine genetica o genomica. Questa vasta popolazione rappresenta in realt\u00e0 la giustapposizione di un numero molto elevato di disturbi, singolarmente rari, che presentano un\u2019estrema diversit\u00e0 di cause e fenotipi. La competenza e l\u2019ambito di specializzazione di questo Centro ITHACA comprendono:<\/p>\n\n\n\n

    \n
  • oltre 5.500 sindromi dismorfiche e anomalie congenite multiple (MCA), tra cui oltre 3.000 malattie monogeniche, tutte le anomalie cromosomiche (la maggior parte delle quali rilevabili solo tramite tecnologie di array), anomalie dismorfologiche multifattoriali e sporadiche ed embriopatie di origine ambientale<\/li>\n\n\n\n
  • >3000 forme monogeniche e centinaia di forme cromosomiche di ritardo mentale, con o senza disturbo dello spettro autistico (ASD) associato<\/li>\n<\/ul>","protected":false},"featured_media":0,"template":"","tags":[],"country":[12],"center-status":[47],"class_list":["post-292","expert-centers","type-expert-centers","status-publish","hentry","country-austria","center-status-affiliated-partner"],"acf":{"name-city":"Innsbruck Center","representative":"Dr Christine Fauth","latitude":"47.2692124 ","longitude":"11.4041024","keywords-search":""},"yoast_head":"\nERN-ITHACA \u2013 Innsbruck Center - 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\/it\/about-us\/expert-centers\/ern-ithaca-innsbruck-center\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA \u2013 Innsbruck Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Medical University InnsbruckAnichstrasse 356020 InnsbruckAUSTRIA Lead Dr Christine Fauth Mail:\u00a0i-master@i-med.ac.at Tel: +43 512 9003 – 0 Scope The area of expertise of our Centre, as member of the ITHACA European Reference Network (ERN), covers all syndromes exhibiting developmental anomalies and\/or intellectual disability (ID). 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