{"id":442,"date":"2022-02-08T21:10:52","date_gmt":"2022-02-08T20:10:52","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&#038;p=442"},"modified":"2025-05-19T14:06:22","modified_gmt":"2025-05-19T12:06:22","slug":"ern-ithaca-amsterdam-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/es\/about-us\/expert-centers\/ern-ithaca-amsterdam-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centro de \u00c1msterdam"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Policl\u00ednica Infantil de Gen\u00e9tica Cl\u00ednica<br>Departamento de Pediatr\u00eda, Divisi\u00f3n de Trastornos Hereditarios y Cong\u00e9nitos<br>Hospital Infantil Emma<br>UMC de \u00c1msterdam<br>Meibergdreef, 9<br>1105 AZ \u00c1MSTERDAM<br>Pa\u00edses Bajos<\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.amc.nl\/web\/mijn-kind-heeft-een-afspraak-1\/klinische-genetica-bij-kinderen.htm\">P\u00e1gina web<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"lead\">Plomo<\/h2>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-vertically-aligned-center is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:15%\"><\/div>\n\n\n\n<div class=\"wp-block-column is-vertically-aligned-center is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:85%\">\n<p class=\"wp-block-paragraph\"><strong>Dra. Mieke van Haelst<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"scope\">\u00c1mbito de aplicaci\u00f3n<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">El \u00e1mbito de especializaci\u00f3n del Centro de \u00c1msterdam 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 del Centro incluyen:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>m\u00e1s de 5.500 s\u00edndromes dism\u00f3rficos y de anomal\u00edas cong\u00e9nitas m\u00faltiples (MCA) (recogidos en la Base de Datos de Dismorfolog\u00eda de Londres), 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<li>&gt;1.500 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<h2 class=\"wp-block-heading\" id=\"service-to-patients\">Atenci\u00f3n a los pacientes<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La poblaci\u00f3n regional<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[64],"center-status":[15],"class_list":["post-442","expert-centers","type-expert-centers","status-publish","hentry","country-netherlands","center-status-full-member"],"acf":{"name-city":"Amsterdam Center","representative":"Dr Leonie A. 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