{"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\/es\/guidelines\/ern-ithaca-guidelines\/cornelia-de-lange-guideline\/","title":{"rendered":"Gu\u00eda sobre el s\u00edndrome de Cornelia de Lange"},"content":{"rendered":"<p class=\"has-vivid-cyan-blue-color has-text-color has-link-color wp-elements-1 wp-block-paragraph\"><em><strong>Esta recomendaci\u00f3n se ajusta a los \u00faltimos resultados de investigaci\u00f3n disponibles a fecha de julio de 2019.<\/strong><\/em><\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"background-2\">Antecedentes<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">El s\u00edndrome de Cornelia de Lange (CdLS) es un s\u00edndrome gen\u00e9tico arquet\u00edpico que se caracteriza por discapacidad intelectual, rasgos faciales bien definidos, anomal\u00edas en las extremidades superiores y crecimiento at\u00edpico, entre otros numerosos signos y s\u00edntomas. Est\u00e1 causado por variantes en cualquiera de los siete genes implicados, todos los cuales desempe\u00f1an una funci\u00f3n estructural o reguladora en el complejo de la cohesina. Aunque los recientes avances en la secuenciaci\u00f3n de \u00faltima generaci\u00f3n han mejorado el diagn\u00f3stico molecular, existe una marcada heterogeneidad en los enfoques de diagn\u00f3stico cl\u00ednico y molecular, as\u00ed como en las pr\u00e1cticas asistenciales, en todo el mundo. En este art\u00edculo, presentamos una serie de recomendaciones que recogen el consenso de un grupo de expertos internacionales sobre los criterios de diagn\u00f3stico cl\u00ednico, tanto para los fenotipos cl\u00e1sicos como para los no cl\u00e1sicos del CdLS, as\u00ed como sobre las pruebas moleculares, el seguimiento a largo plazo y la planificaci\u00f3n de la atenci\u00f3n.<\/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\">M\u00e9todos<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">El Grupo Internacional de Consenso sobre el S\u00edndrome de CdLS estaba formado por 43 participantes procedentes de 30 instituciones de 9 pa\u00edses. El grupo estaba compuesto por m\u00e9dicos, cient\u00edficos y dos representantes de asociaciones de pacientes. Los m\u00e9dicos ejercen en Am\u00e9rica del Norte, Am\u00e9rica del Sur y Europa. Una versi\u00f3n modificada&nbsp;<a href=\"https:\/\/www.nature.com\/articles\/s41576-018-0031-0#Glos6\">Proceso de consenso de Delphi<\/a>&nbsp;se adopt\u00f3 (Tabla&nbsp;<a href=\"https:\/\/www.nature.com\/articles\/s41576-018-0031-0#Tab1\">1<\/a>). Las deliberaciones se llevaron a cabo mediante videoconferencias, comunicaciones por correo electr\u00f3nico e intercambio de archivos. Se contact\u00f3 por correo electr\u00f3nico con todos los grupos de apoyo conocidos para identificar las cuestiones clave que deb\u00edan abordarse durante el proceso de consenso. Posteriormente, el Grupo de Consenso determin\u00f3 las cuestiones que deb\u00edan abordarse en una videoconferencia. En noviembre de 2017 se celebr\u00f3 una reuni\u00f3n plenaria presencial de dos d\u00edas de duraci\u00f3n en la que participaron 17 personas (incluidos los representantes de los grupos de pacientes). Las recomendaciones consensuadas fueron sometidas a votaci\u00f3n por 37 participantes (para las recomendaciones R1\u2013R68, v\u00e9ase el recuadro complementario&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\">Conclusi\u00f3n<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">Las presentes recomendaciones proporcionan un marco para mejorar el diagn\u00f3stico y el tratamiento del s\u00edndrome de CdLS. El s\u00edndrome de CdLS es un trastorno complejo que afecta a numerosos sistemas del organismo, por lo que es importante designar a un m\u00e9dico responsable para cada paciente con el fin de garantizar la coordinaci\u00f3n de los numerosos aspectos de la atenci\u00f3n, tanto en la infancia como en la edad adulta. Las v\u00edas de diagn\u00f3stico cl\u00ednico y molecular propuestas pretenden ser de aplicaci\u00f3n universal, tanto en pa\u00edses con acceso a t\u00e9cnicas modernas como en aquellos en los que esto a\u00fan no es posible, y est\u00e1n concebidas para ser rentables, evitando procedimientos diagn\u00f3sticos o de tratamiento innecesarios. No obstante, en algunos sistemas sanitarios y entornos m\u00e9dico-legales, puede ser necesario adaptar las directrices. Es importante que la aplicaci\u00f3n de las recomendaciones consensuadas vaya acompa\u00f1ada de auditor\u00edas prospectivas con el fin de ampliar la base emp\u00edrica y permitir futuras mejoras del consenso.<\/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\">Referencia<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">Kline, A. D., Moss, J. F., Selicorni, A.&nbsp;<em>et al.<\/em>&nbsp;Diagn\u00f3stico y tratamiento del s\u00edndrome de Cornelia de Lange: primera declaraci\u00f3n de consenso internacional.&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\">Consulta la publicaci\u00f3n completa en 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\/es\/guidelines\/ern-ithaca-guidelines\/cornelia-de-lange-guideline\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\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\/es\/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=\"Tiempo de lectura\" \/>\n\t<meta name=\"twitter:data1\" content=\"2 minutos\" \/>\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\":\"es\",\"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\":\"es\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\",\"name\":\"ERN-ITHACA\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"es\",\"@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\/es\/guidelines\/ern-ithaca-guidelines\/cornelia-de-lange-guideline\/","og_locale":"es_ES","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. 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