{"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\/de\/about-us\/expert-centers\/ern-ithaca-coimbra-center\/","title":{"rendered":"ERN-ITHACA \u2013 Zentrum von Coimbra"},"content":{"rendered":"
\"\"<\/figure>\n\n\n\n


Unidade Local de Sa\u00fade de Coimbra (ULS de Coimbra)<\/strong>
Quinta dos Vales
3041-801\u00a0COIMBRA
PORTUGAL<\/p>\n\n\n\n

\n
Website<\/a><\/div>\n<\/div>\n\n\n\n

Blei<\/h2>\n\n\n\n

Dr Lina Ramos<\/strong><\/p>\n\n\n\n

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

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

E-Mail<\/strong>: genetic@chc.min-saude.pt<\/a><\/p>\n\n\n\n

Geltungsbereich<\/h2>\n\n\n\n

Das Fachgebiet unseres Zentrums als Mitglied des europ\u00e4ischen Referenznetzwerks (ERN) \u201eITHACA\u201c umfasst alle Syndrome, die mit Entwicklungsst\u00f6rungen und\/oder einer geistigen Behinderung (ID) einhergehen. Etwa 1 von 40 Neugeborenen weist eine angeborene Fehlbildung auf (261 von 10.000 F\u00f6ten und Neugeborenen laut EuroCAt-Berichten), und 1 von 40 leidet unter einer geistigen Behinderung. Daher weisen 3 bis 5 von % aller Geburten eine Entwicklungsanomalie auf oder werden eine solche entwickeln, von denen mindestens 25\u201350 von % genetischen oder genomischen Ursprungs sind. Diese riesige Population stellt in Wirklichkeit eine Ansammlung einer sehr gro\u00dfen Anzahl von einzeln seltenen Erkrankungen dar, die eine extreme Vielfalt an Ursachen und Ph\u00e4notypen aufweisen. Der Zust\u00e4ndigkeitsbereich und das Fachgebiet dieses ITHACA-Zentrums umfassen:<\/p>\n\n\n\n

    \n
  • over 5500 dysmorphic and multiple congenital anomalie (MCA) syndromes (listed in Oprhanet), among which over 3000 monogenic diseases, all chromosome abnormalities (most of them only detectable through array technologies), multifactorial, sporadic dysmorphological anomalies and embryofetopathies of environmental origin<\/li>\n\n\n\n
  • >3000 monogenic and hundreds chromosomal forms of ID with or without associated autism spectrum disorder (ASD)<\/li>\n<\/ul>\n\n\n\n

    Dienst am Patienten<\/h2>\n\n\n\n

    Die Bev\u00f6lkerung der Region<\/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\/de\/about-us\/expert-centers\/ern-ithaca-coimbra-center\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\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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