{"id":456,"date":"2022-02-09T13:58:44","date_gmt":"2022-02-09T12:58:44","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=456"},"modified":"2025-06-26T11:31:51","modified_gmt":"2025-06-26T09:31:51","slug":"ern-ithaca-coimbra-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/es\/about-us\/expert-centers\/ern-ithaca-coimbra-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centro de Coimbra"},"content":{"rendered":"
\"\"<\/figure>\n\n\n\n


Unidad Local de Salud de Coimbra (ULS de Coimbra)<\/strong>
Quinta dos Vales
3041-801 CO\u00cdMBRA
PORTUGAL<\/p>\n\n\n\n

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

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

Dra. Lina Ramos<\/strong><\/p>\n\n\n\n

Tel\u00e9fono<\/strong>: +351 239 480 638<\/p>\n\n\n\n

Fax<\/strong>: 351 239 717 216<\/p>\n\n\n\n

Correo<\/strong>: genetic@chc.min-saude.pt<\/a><\/p>\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) (recogidos en Orphanet), entre los que se incluyen m\u00e1s de 3.000 enfermedades monog\u00e9nicas, todas las anomal\u00edas cromos\u00f3micas (la mayor\u00eda de ellas solo detectables 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>\n\n\n\n

    Atenci\u00f3n a los pacientes<\/h2>\n\n\n\n

    La poblaci\u00f3n regional<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[67],"center-status":[15],"class_list":["post-456","expert-centers","type-expert-centers","status-publish","hentry","country-portugal","center-status-full-member"],"acf":{"name-city":"Coimbra Center","representative":"Dr Lina Ramos ","latitude":"40.211490 ","longitude":"-8.429200","keywords-search":""},"yoast_head":"\nERN-ITHACA \u2013 Coimbra 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-coimbra-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 Coimbra Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Unidade Local de Sa\u00fade de Coimbra (ULS de Coimbra)Quinta dos Vales3041-801\u00a0COIMBRAPORTUGAL Lead Dr Lina Ramos Telephone: +351 239 480 638 Fax: 351 239 717 216 Mail: genetic@chc.min-saude.pt 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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