{"id":6316,"date":"2024-10-30T18:43:05","date_gmt":"2024-10-30T17:43:05","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?page_id=6316"},"modified":"2025-04-04T15:00:14","modified_gmt":"2025-04-04T13:00:14","slug":"cornelia-de-lange-guideline","status":"publish","type":"page","link":"https:\/\/ern-ithaca.eu\/it\/guidelines\/ern-ithaca-guidelines\/cornelia-de-lange-guideline\/","title":{"rendered":"Cornelia de Lange Guideline"},"content":{"rendered":"<p class=\"has-vivid-cyan-blue-color has-text-color has-link-color wp-elements-1 wp-block-paragraph\"><em><strong>This recommendation is aligned with the latest research findings available as of July 2019.<\/strong><\/em><\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"background-2\">Background<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.<\/p>\n\n\n\n<div style=\"height:62px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"methods-2\">Methods<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">The International CdLS Consensus Group comprised 43 participants from 30 institutions in 9 countries. The group consisted of clinicians, scientists and two patient-group representatives. The clinicians practice in North America, South America and Europe. A modified&nbsp;<a href=\"https:\/\/www.nature.com\/articles\/s41576-018-0031-0#Glos6\">Delphi consensus process<\/a>&nbsp;was adopted (Table&nbsp;<a href=\"https:\/\/www.nature.com\/articles\/s41576-018-0031-0#Tab1\">1<\/a>). Discussions occurred via video conference calls, e-mail communications and file exchanges. All known support groups were contacted by e-mail to identify key issues that should be addressed during the consensus process. Subsequently, the issues to be addressed were determined by the Consensus Group in a video conference call. A plenary face-to-face 2-day meeting of 17 participants (including the patient-group representatives) was held in November 2017. Consensus recommendations were voted on by 37 participants (for recommendations R1\u2013R68, see Supplementary Box&nbsp;<a href=\"https:\/\/www.nature.com\/articles\/s41576-018-0031-0#MOESM1\">1<\/a>).<\/p>\n\n\n\n<div style=\"height:62px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"conclusion-2\">Conclusion<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">The present recommendations provide a framework for improving diagnosis and management of CdLS. CdLS is a complex disorder, in which many body systems are affected, and it is important that a lead clinician is identified for each patient to ensure coordination of the numerous aspects of care in both childhood and adulthood. The proposed clinical and molecular diagnostic pathways are intended to be universally practical, both in countries with access to modern techniques and in those where this is not yet possible, and they are meant to be cost-effective, avoiding unnecessary diagnostic or management procedures. Still, in some health-care systems and medicolegal environments, the guidelines may need to be adapted. It is important that implementation of the consensus recommendations is accompanied by prospective audits in order to expand the evidence base and allow for future ameliorations of the consensus.<\/p>\n\n\n\n<div style=\"height:62px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"reference-2\">Reference<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">Kline, A.D., Moss, J.F., Selicorni, A.&nbsp;<em>et al.<\/em>&nbsp;Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.&nbsp;<em>Nat Rev Genet<\/em>&nbsp;<strong>19,&nbsp;<\/strong>649\u2013666 (2018).&nbsp;<a href=\"https:\/\/doi.org\/10.1038\/s41576-018-0031-0\">https:\/\/doi.org\/10.1038\/s41576-018-0031-0<\/a><\/p>\n\n\n\n<div style=\"height:62px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.nature.com\/articles\/s41576-018-0031-0.pdf\">See the full publication on Nature<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>This recommendation is aligned with the latest research findings available as of July 2019. Background Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of [&hellip;]<\/p>\n","protected":false},"author":253,"featured_media":0,"parent":97,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-6316","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Cornelia de Lange Guideline - 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\/it\/guidelines\/ern-ithaca-guidelines\/cornelia-de-lange-guideline\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Cornelia de Lange Guideline - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"This recommendation is aligned with the latest research findings available as of July 2019. Background Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ern-ithaca.eu\/it\/guidelines\/ern-ithaca-guidelines\/cornelia-de-lange-guideline\/\" \/>\n<meta property=\"og:site_name\" content=\"ERN ITHACA\" \/>\n<meta property=\"article:modified_time\" content=\"2025-04-04T13:00:14+00:00\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:site\" content=\"@ERNIthaca\" \/>\n<meta name=\"twitter:label1\" content=\"Tempo di lettura stimato\" \/>\n\t<meta name=\"twitter:data1\" content=\"2 minuti\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/ern-ithaca-guidelines\\\/cornelia-de-lange-guideline\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/ern-ithaca-guidelines\\\/cornelia-de-lange-guideline\\\/\",\"name\":\"Cornelia de Lange Guideline - ERN ITHACA\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\"},\"datePublished\":\"2024-10-30T17:43:05+00:00\",\"dateModified\":\"2025-04-04T13:00:14+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/ern-ithaca-guidelines\\\/cornelia-de-lange-guideline\\\/#breadcrumb\"},\"inLanguage\":\"it-IT\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/ern-ithaca-guidelines\\\/cornelia-de-lange-guideline\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/ern-ithaca-guidelines\\\/cornelia-de-lange-guideline\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Guidelines\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"ERN ITHACA Guidelines\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/ern-ithaca-guidelines\\\/\"},{\"@type\":\"ListItem\",\"position\":4,\"name\":\"Cornelia de Lange Guideline\"}]},{\"@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\":\"it-IT\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\",\"name\":\"ERN-ITHACA\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"it-IT\",\"@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":"Cornelia de Lange Guideline - 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\/it\/guidelines\/ern-ithaca-guidelines\/cornelia-de-lange-guideline\/","og_locale":"it_IT","og_type":"article","og_title":"Cornelia de Lange Guideline - ERN ITHACA","og_description":"This recommendation is aligned with the latest research findings available as of July 2019. Background Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. 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