{"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\/fr\/about-us\/expert-centers\/ern-ithaca-amsterdam-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centre d'Amsterdam"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Kinderpolikliniek Klinische Genetica<br>Department of Pediatrics, Division of hereditary and congenital disorders<br>Emma Kinderziekenhuis<br>Amsterdam UMC<br>Meibergdreef 9<br>1105 AZ&nbsp;AMSTERDAM<br>The Netherlands<\/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\">Site web<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"lead\">Plomb<\/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>Dr 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\">Champ d'application<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">The area of expertise of the Amsterdam Centre of the ITHACA European Reference Network (ERN) covers all syndromes exhibiting developmental anomalies and\/or intellectual disability (ID). About 1\/40 newborn has a congenital malformation (261\/10000 fetuses and newborn following EuroCAt reports), and 1\/40 has ID. Therefore, 3 to 5 % of all human births show or will develop a developmental anomaly, among which at least 25-50% are of genetic or genomic origin. This huge population represents in reality the juxtaposition of a very large number of individually rare disorders showing an extreme diversity of causes and phenotypes. The jurisdiction and scope of expertise of the Centre includes:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>plus de 5 500 syndromes dysmorphiques et anomalies cong\u00e9nitales multiples (MCA) (r\u00e9pertori\u00e9s dans la base de donn\u00e9es de dysmorphologie de Londres), parmi lesquels plus de 3 000 maladies monog\u00e9niques, toutes les anomalies chromosomiques (dont la plupart ne sont d\u00e9tectables que gr\u00e2ce aux technologies de puces \u00e0 ADN), des anomalies dysmorphologiques multifactorielles et sporadiques, ainsi que des embryof\u00e9topathies d\u2019origine environnementale<\/li>\n\n\n\n<li>&gt;1 500 formes monog\u00e9niques et plusieurs centaines de formes chromosomiques de d\u00e9ficience intellectuelle, associ\u00e9es ou non \u00e0 un trouble du spectre autistique (TSA)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"service-to-patients\">Service aux patients<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La population r\u00e9gionale<\/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. Menke","latitude":"52.370216","longitude":"4.895168","keywords-search":""},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>ERN-ITHACA \u2013 Amsterdam 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-amsterdam-center\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA \u2013 Amsterdam Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Kinderpolikliniek Klinische GeneticaDepartment of Pediatrics, Division of hereditary and congenital disordersEmma KinderziekenhuisAmsterdam UMCMeibergdreef 91105 AZ&nbsp;AMSTERDAMThe Netherlands Lead Dr Mieke van Haelst Scope The area of expertise of the Amsterdam Centre of the ITHACA European Reference Network (ERN) covers all syndromes exhibiting developmental anomalies and\/or intellectual disability (ID). About 1\/40 newborn has a congenital malformation (261\/10000 [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-amsterdam-center\/\" \/>\n<meta property=\"og:site_name\" content=\"ERN ITHACA\" \/>\n<meta property=\"article:modified_time\" content=\"2025-05-19T12:06:22+00:00\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:site\" content=\"@ERNIthaca\" \/>\n<meta name=\"twitter:label1\" content=\"Dur\u00e9e de lecture estim\u00e9e\" \/>\n\t<meta name=\"twitter:data1\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-amsterdam-center\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-amsterdam-center\\\/\",\"name\":\"ERN-ITHACA \u2013 Amsterdam Center - ERN ITHACA\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\"},\"datePublished\":\"2022-02-08T20:10:52+00:00\",\"dateModified\":\"2025-05-19T12:06:22+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-amsterdam-center\\\/#breadcrumb\"},\"inLanguage\":\"fr-FR\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-amsterdam-center\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-amsterdam-center\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"About us > Our EU expert centers\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"ERN-ITHACA \u2013 Amsterdam Center\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"name\":\"ERN ITHACA\",\"description\":\"WELCOME TO ERN-ITHACA WEBSITE!\",\"publisher\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/ern-ithaca.eu\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"fr-FR\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\",\"name\":\"ERN-ITHACA\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"fr-FR\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Logo-ERN-ITHACA.jpg\",\"contentUrl\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Logo-ERN-ITHACA.jpg\",\"width\":454,\"height\":172,\"caption\":\"ERN-ITHACA\"},\"image\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#\\\/schema\\\/logo\\\/image\\\/\"},\"sameAs\":[\"https:\\\/\\\/x.com\\\/ERNIthaca\",\"https:\\\/\\\/www.linkedin.com\\\/company\\\/ithaca-european-reference-network-on-congenital-malformations-ans-rare-intellectual-disability\\\/?viewAsMember=true\"]}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"ERN-ITHACA \u2013 Amsterdam Center - ERN ITHACA","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-amsterdam-center\/","og_locale":"fr_FR","og_type":"article","og_title":"ERN-ITHACA \u2013 Amsterdam Center - ERN ITHACA","og_description":"Kinderpolikliniek Klinische GeneticaDepartment of Pediatrics, Division of hereditary and congenital disordersEmma KinderziekenhuisAmsterdam UMCMeibergdreef 91105 AZ&nbsp;AMSTERDAMThe Netherlands Lead Dr Mieke van Haelst Scope The area of expertise of the Amsterdam Centre of the ITHACA European Reference Network (ERN) covers all syndromes exhibiting developmental anomalies and\/or intellectual disability (ID). About 1\/40 newborn has a congenital malformation (261\/10000 [&hellip;]","og_url":"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-amsterdam-center\/","og_site_name":"ERN ITHACA","article_modified_time":"2025-05-19T12:06:22+00:00","twitter_card":"summary_large_image","twitter_site":"@ERNIthaca","twitter_misc":{"Dur\u00e9e de lecture estim\u00e9e":"2 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/ern-ithaca.eu\/about-us\/expert-centers\/ern-ithaca-amsterdam-center\/","url":"https:\/\/ern-ithaca.eu\/about-us\/expert-centers\/ern-ithaca-amsterdam-center\/","name":"ERN-ITHACA \u2013 Amsterdam Center - ERN ITHACA","isPartOf":{"@id":"https:\/\/ern-ithaca.eu\/#website"},"datePublished":"2022-02-08T20:10:52+00:00","dateModified":"2025-05-19T12:06:22+00:00","breadcrumb":{"@id":"https:\/\/ern-ithaca.eu\/about-us\/expert-centers\/ern-ithaca-amsterdam-center\/#breadcrumb"},"inLanguage":"fr-FR","potentialAction":[{"@type":"ReadAction","target":["https:\/\/ern-ithaca.eu\/about-us\/expert-centers\/ern-ithaca-amsterdam-center\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/ern-ithaca.eu\/about-us\/expert-centers\/ern-ithaca-amsterdam-center\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/ern-ithaca.eu\/"},{"@type":"ListItem","position":2,"name":"About us > Our EU expert centers","item":"https:\/\/ern-ithaca.eu\/about-us\/expert-centers\/"},{"@type":"ListItem","position":3,"name":"ERN-ITHACA \u2013 Amsterdam Center"}]},{"@type":"WebSite","@id":"https:\/\/ern-ithaca.eu\/#website","url":"https:\/\/ern-ithaca.eu\/","name":"ERN ITHACA","description":"WELCOME TO ERN-ITHACA WEBSITE!","publisher":{"@id":"https:\/\/ern-ithaca.eu\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/ern-ithaca.eu\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"fr-FR"},{"@type":"Organization","@id":"https:\/\/ern-ithaca.eu\/#organization","name":"ERN-ITHACA","url":"https:\/\/ern-ithaca.eu\/","logo":{"@type":"ImageObject","inLanguage":"fr-FR","@id":"https:\/\/ern-ithaca.eu\/#\/schema\/logo\/image\/","url":"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Logo-ERN-ITHACA.jpg","contentUrl":"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Logo-ERN-ITHACA.jpg","width":454,"height":172,"caption":"ERN-ITHACA"},"image":{"@id":"https:\/\/ern-ithaca.eu\/#\/schema\/logo\/image\/"},"sameAs":["https:\/\/x.com\/ERNIthaca","https:\/\/www.linkedin.com\/company\/ithaca-european-reference-network-on-congenital-malformations-ans-rare-intellectual-disability\/?viewAsMember=true"]}]}},"_links":{"self":[{"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/expert-centers\/442","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/expert-centers"}],"about":[{"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/types\/expert-centers"}],"wp:attachment":[{"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/media?parent=442"}],"wp:term":[{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/tags?post=442"},{"taxonomy":"country","embeddable":true,"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/country?post=442"},{"taxonomy":"center-status","embeddable":true,"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/center-status?post=442"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}