{"id":772,"date":"2022-02-16T16:48:59","date_gmt":"2022-02-16T15:48:59","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=772"},"modified":"2022-02-23T13:56:15","modified_gmt":"2022-02-23T12:56:15","slug":"ern-ithaca-12-de-octubre-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-12-de-octubre-center\/","title":{"rendered":"Centre ERN-ITHACA \u00ab 12 octobre \u00bb"},"content":{"rendered":"

H\u00f4pital universitaire \u00ab 12 de Octubre \u00bb
Avenue de C\u00f3rdoba, s\/n
28041 Madrid
Espagne<\/p>\n\n\n\n

Plomb<\/h2>\n\n\n\n

Dr Noem\u00ed Nu\u00f1ez Enamorado<\/strong><\/p>\n\n\n\n

T\u00e9l\u00e9phone<\/strong>: : +34 913 90 80 00<\/a><\/p>\n\n\n\n

Champ d'application<\/h2>\n\n\n\n

En tant que membre du R\u00e9seau europ\u00e9en de r\u00e9f\u00e9rence (ERN) ITHACA, notre centre est sp\u00e9cialis\u00e9 dans les syndromes se caract\u00e9risant par une d\u00e9ficience intellectuelle (DI) et\/ou des malformations cong\u00e9nitales rares, avec un int\u00e9r\u00eat particulier pour les diff\u00e9rentes formes de malformations craniofaciales. Environ 1 nouveau-n\u00e9 sur 40 pr\u00e9sente une malformation cong\u00e9nitale et jusqu\u2019\u00e0 2% souffrent ou pr\u00e9senteront une d\u00e9ficience intellectuelle, caus\u00e9es par diff\u00e9rentes maladies rares prises individuellement, parmi lesquelles jusqu\u2019\u00e0 50% sont d\u2019origine g\u00e9n\u00e9tique ou g\u00e9nomique. Le champ d\u2019action et le p\u00e9rim\u00e8tre d\u2019expertise du Centre de D\u00fcsseldorf ITHACA comprennent :<\/p>\n\n\n\n

  • plus de 5 500 syndromes dysmorphologiques et d\u2019anomalies cong\u00e9nitales multiples (MCA) (r\u00e9pertori\u00e9s dans la base de donn\u00e9es de dysmorphologie de Londres), comprenant des maladies monog\u00e9niques, des anomalies chromosomiques (d\u00e9tectables par analyse chromosomique conventionnelle et\/ou par la technologie CGH-Array), des anomalies multifactorielles ou sporadiques ainsi que des embryof\u00e9topathies d\u2019origine environnementale<\/li>
  • >1 500 formes monog\u00e9niques et des centaines de formes chromosomiques de d\u00e9ficience intellectuelle, associ\u00e9es ou non \u00e0 un trouble du spectre autistique (TSA).<\/li><\/ul>","protected":false},"featured_media":0,"template":"","tags":[],"country":[89],"center-status":[47],"class_list":["post-772","expert-centers","type-expert-centers","status-publish","hentry","country-spain","center-status-affiliated-partner"],"acf":{"name-city":"Madrid 12 de Octubre Center","representative":"Dr Noem\u00ed Nu\u00f1ez Enamorado","latitude":"40.376414071986744","longitude":"-3.698942426987812","keywords-search":""},"yoast_head":"\nERN-ITHACA 12 de Octubre 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\/fr\/about-us\/expert-centers\/ern-ithaca-12-de-octubre-center\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA 12 de Octubre Center - 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