{"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\/it\/about-us\/expert-centers\/ern-ithaca-amsterdam-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centro di Amsterdam"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Policlinico pediatrico di genetica clinica<br>Dipartimento di Pediatria, Sezione di malattie ereditarie e congenite<br>Ospedale pediatrico Emma<br>Amsterdam UMC<br>Meibergdreef 9<br>1105 AZ AMSTERDAM<br>Paesi Bassi<\/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\">Sito web<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"lead\">Piombo<\/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>Dott.ssa 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\">Ambito di applicazione<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">L\u2019area di competenza del Centro di Amsterdam della Rete di riferimento europea (ERN) ITHACA copre tutte le sindromi caratterizzate da anomalie dello sviluppo e\/o disabilit\u00e0 intellettiva (DI). Circa 1 neonato su 40 presenta una malformazione congenita (261 su 10.000 feti e neonati secondo i rapporti EuroCAt) e 1 su 40 presenta una disabilit\u00e0 intellettiva. Pertanto, da 3 a 5 % di tutte le nascite umane presentano o svilupperanno un\u2019anomalia dello sviluppo, tra cui almeno 25-50% sono di origine genetica o genomica. Questa vasta popolazione rappresenta in realt\u00e0 la giustapposizione di un numero molto elevato di disturbi, singolarmente rari, che presentano un\u2019estrema diversit\u00e0 di cause e fenotipi. La competenza e l\u2019ambito di specializzazione del Centro comprendono:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>oltre 5.500 sindromi dismorfiche e di anomalie congenite multiple (MCA) (elencate nel London Dysmorphology Database), tra cui oltre 3.000 malattie monogeniche, tutte le anomalie cromosomiche (la maggior parte delle quali rilevabili solo tramite tecnologie di array), anomalie dismorfologiche multifattoriali e sporadiche ed embriopatie di origine ambientale<\/li>\n\n\n\n<li>&gt;1.500 forme monogeniche e centinaia di forme cromosomiche di ritardo mentale, con o senza disturbo dello spettro autistico (ASD) associato<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"service-to-patients\">Assistenza ai pazienti<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La popolazione regionale<\/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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