{"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\/es\/about-us\/expert-centers\/ern-ithaca-innsbruck-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centro de Innsbruck"},"content":{"rendered":"
\"\"<\/figure>\n\n\n\n


Universidad de Medicina de Innsbruck<\/strong>
Anichstrasse, 35
6020 Innsbruck
AUSTRIA<\/p>\n\n\n\n

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P\u00e1gina web<\/a><\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n

Plomo<\/h2>\n\n\n\n
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<\/div>\n\n\n\n
\n

Dra. Christine Fauth<\/strong><\/p>\n\n\n\n

Correo<\/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

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

\u00c1mbito de aplicaci\u00f3n<\/h2>\n\n\n\n

El \u00e1mbito de especializaci\u00f3n de nuestro centro, como miembro de la Red Europea de Referencia (ERN) ITHACA, abarca todos los s\u00edndromes que presentan anomal\u00edas del desarrollo y\/o discapacidad intelectual (DI). Aproximadamente 1 de cada 40 reci\u00e9n nacidos presenta una malformaci\u00f3n cong\u00e9nita (261 de cada 10 000 fetos y reci\u00e9n nacidos, seg\u00fan los informes de EuroCAt), y 1 de cada 40 presenta DI. Por lo tanto, entre 3 y 5 % de todos los nacimientos humanos presentan o desarrollar\u00e1n una anomal\u00eda del desarrollo, de las cuales al menos entre 25 y 50 % son de origen gen\u00e9tico o gen\u00f3mico. Esta enorme poblaci\u00f3n representa, en realidad, la yuxtaposici\u00f3n de un n\u00famero muy elevado de trastornos raros a nivel individual que presentan una diversidad extrema de causas y fenotipos. La competencia y el \u00e1mbito de especializaci\u00f3n de este centro ITHACA incluyen:<\/p>\n\n\n\n

    \n
  • m\u00e1s de 5.500 s\u00edndromes dism\u00f3rficos y de anomal\u00edas cong\u00e9nitas m\u00faltiples (MCA), entre los que se incluyen m\u00e1s de 3.000 enfermedades monog\u00e9nicas, todas las anomal\u00edas cromos\u00f3micas (la mayor\u00eda de ellas detectables \u00fanicamente mediante tecnolog\u00edas de microarrays), anomal\u00edas dism\u00f3rficas multifactoriales y espor\u00e1dicas, y embriopat\u00edas de origen ambiental<\/li>\n\n\n\n
  • >3.000 formas monog\u00e9nicas y cientos de formas cromos\u00f3micas de discapacidad intelectual, con o sin trastorno del espectro autista (TEA) asociado<\/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\/es\/about-us\/expert-centers\/ern-ithaca-innsbruck-center\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\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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