{"id":353,"date":"2023-02-20T14:41:42","date_gmt":"2023-02-20T13:41:42","guid":{"rendered":"https:\/\/www.chu-tours.fr\/pemr-cvl\/?page_id=353"},"modified":"2025-01-06T10:08:03","modified_gmt":"2025-01-06T09:08:03","slug":"anomalies-du-developpement-et-syndromes-malformatifs-de-louest","status":"publish","type":"page","link":"https:\/\/www.chu-tours.fr\/pemr-cvl\/anomalies-du-developpement-et-syndromes-malformatifs-de-louest\/","title":{"rendered":"Anomalies du D\u00e9veloppement et Syndromes Malformatifs de L\u2019Ouest"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"353\" class=\"elementor elementor-353\" data-elementor-post-type=\"page\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-69e0228d elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"69e0228d\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-23cb63ad\" data-id=\"23cb63ad\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-2bb79092 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"2bb79092\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-inner-column elementor-element elementor-element-78045d75\" data-id=\"78045d75\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap\">\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-inner-column elementor-element elementor-element-a56533d\" data-id=\"a56533d\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-4977fa4 elementor-widget elementor-widget-image\" data-id=\"4977fa4\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.23.0 - 15-07-2024 *\/\n.elementor-widget-image{text-align:center}.elementor-widget-image a{display:inline-block}.elementor-widget-image a img[src$=\".svg\"]{width:48px}.elementor-widget-image img{vertical-align:middle;display:inline-block}<\/style>\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" width=\"131\" height=\"101\" src=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/logo-crmr.png\" class=\"attachment-large size-large wp-image-361\" alt=\"\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-inner-column elementor-element elementor-element-1cff06c\" data-id=\"1cff06c\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap\">\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-2197be85 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"2197be85\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-inner-column elementor-element elementor-element-4ab65f4e\" data-id=\"4ab65f4e\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-4a042e7e elementor-widget elementor-widget-image\" data-id=\"4a042e7e\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" width=\"142\" height=\"141\" src=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/logo-centre-ref-adsm.png\" class=\"attachment-large size-large wp-image-363\" alt=\"\" srcset=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/logo-centre-ref-adsm.png 142w, https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/logo-centre-ref-adsm-40x40.png 40w\" sizes=\"(max-width: 142px) 100vw, 142px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-inner-column elementor-element elementor-element-4d856882\" data-id=\"4d856882\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-35c5a796 elementor-widget elementor-widget-image\" data-id=\"35c5a796\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"546\" height=\"331\" src=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/CRC-muco-pathos-cftr-home.jpg\" class=\"attachment-large size-large wp-image-364\" alt=\"\" srcset=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/CRC-muco-pathos-cftr-home.jpg 546w, https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/CRC-muco-pathos-cftr-home-300x182.jpg 300w\" sizes=\"(max-width: 546px) 100vw, 546px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-inner-column elementor-element elementor-element-6ab89bd6\" data-id=\"6ab89bd6\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-3677b6a4 elementor-widget elementor-widget-image\" data-id=\"3677b6a4\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" width=\"153\" height=\"154\" src=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/logo-anddi-rares.jpg\" class=\"attachment-large size-large wp-image-362\" alt=\"logo anddi rares\" srcset=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/logo-anddi-rares.jpg 153w, https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/logo-anddi-rares-150x150.jpg 150w, https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/logo-anddi-rares-40x40.jpg 40w\" sizes=\"(max-width: 153px) 100vw, 153px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<div class=\"elementor-element elementor-element-2a58f9ff elementor-widget elementor-widget-heading\" data-id=\"2a58f9ff\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.23.0 - 15-07-2024 *\/\n.elementor-heading-title{padding:0;margin:0;line-height:1}.elementor-widget-heading .elementor-heading-title[class*=elementor-size-]>a{color:inherit;font-size:inherit;line-height:inherit}.elementor-widget-heading .elementor-heading-title.elementor-size-small{font-size:15px}.elementor-widget-heading .elementor-heading-title.elementor-size-medium{font-size:19px}.elementor-widget-heading .elementor-heading-title.elementor-size-large{font-size:29px}.elementor-widget-heading .elementor-heading-title.elementor-size-xl{font-size:39px}.elementor-widget-heading .elementor-heading-title.elementor-size-xxl{font-size:59px}<\/style><h2 class=\"elementor-heading-title elementor-size-default\">Centre de R\u00e9f\u00e9rence Constitutif des Anomalies du D\u00e9veloppement et Syndromes Malformatifs de L\u2019Ouest\n<\/h2>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-6bfa0b8c elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"6bfa0b8c\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-3c213175\" data-id=\"3c213175\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-2708ec89 elementor-widget elementor-widget-text-editor\" data-id=\"2708ec89\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.23.0 - 15-07-2024 *\/\n.elementor-widget-text-editor.elementor-drop-cap-view-stacked .elementor-drop-cap{background-color:#69727d;color:#fff}.elementor-widget-text-editor.elementor-drop-cap-view-framed .elementor-drop-cap{color:#69727d;border:3px solid;background-color:transparent}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap{margin-top:8px}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap-letter{width:1em;height:1em}.elementor-widget-text-editor .elementor-drop-cap{float:left;text-align:center;line-height:1;font-size:50px}.elementor-widget-text-editor .elementor-drop-cap-letter{display:inline-block}<\/style>\t\t\t\t<p>Le Centre de r\u00e9f\u00e9rence constitutif est compos\u00e9 d\u2019une \u00e9quipe pluridisciplinaire sp\u00e9cialis\u00e9e :<\/p><p><strong>Ses missions :<\/strong><\/p><ul><li>Assurer le diagnostic et la coordination des soins<\/li><li>Coordonner et participer \u00e0 des projets de recherche (fondamentales, cliniques, \u00e9pid\u00e9miologiques)<\/li><li>Promouvoir l\u2019enseignement et la formation (universitaire et post-universitaire) ainsi que l\u2019information au public<\/li><\/ul><p><strong>Le centre est membre :<\/strong><\/p><ul><li>Du r\u00e9seau inter-r\u00e9gional de l\u2019Ouest des anomalies du d\u00e9veloppement<\/li><li>De la Fili\u00e8re de Sant\u00e9 Maladies Rares AnDDI-Rares<\/li><\/ul>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-2de84742 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"2de84742\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-inner-column elementor-element elementor-element-291c6b30\" data-id=\"291c6b30\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-64faffec elementor-widget elementor-widget-image\" data-id=\"64faffec\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" width=\"40\" height=\"40\" src=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/uk-flag-square-icon-128-40x40-1-40x40.png\" class=\"attachment-pictogramme-home size-pictogramme-home wp-image-372\" alt=\"\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-inner-column elementor-element elementor-element-2fd52d09\" data-id=\"2fd52d09\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-70c42876 elementor-widget elementor-widget-toggle\" data-id=\"70c42876\" data-element_type=\"widget\" data-widget_type=\"toggle.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.23.0 - 15-07-2024 *\/\n.elementor-toggle{text-align:start}.elementor-toggle .elementor-tab-title{font-weight:700;line-height:1;margin:0;padding:15px;border-bottom:1px solid #d5d8dc;cursor:pointer;outline:none}.elementor-toggle .elementor-tab-title .elementor-toggle-icon{display:inline-block;width:1em}.elementor-toggle .elementor-tab-title .elementor-toggle-icon svg{margin-inline-start:-5px;width:1em;height:1em}.elementor-toggle .elementor-tab-title .elementor-toggle-icon.elementor-toggle-icon-right{float:right;text-align:right}.elementor-toggle .elementor-tab-title .elementor-toggle-icon.elementor-toggle-icon-left{float:left;text-align:left}.elementor-toggle .elementor-tab-title .elementor-toggle-icon .elementor-toggle-icon-closed{display:block}.elementor-toggle .elementor-tab-title .elementor-toggle-icon .elementor-toggle-icon-opened{display:none}.elementor-toggle .elementor-tab-title.elementor-active{border-bottom:none}.elementor-toggle .elementor-tab-title.elementor-active .elementor-toggle-icon-closed{display:none}.elementor-toggle .elementor-tab-title.elementor-active .elementor-toggle-icon-opened{display:block}.elementor-toggle .elementor-tab-content{padding:15px;border-bottom:1px solid #d5d8dc;display:none}@media (max-width:767px){.elementor-toggle .elementor-tab-title{padding:12px}.elementor-toggle .elementor-tab-content{padding:12px 10px}}.e-con-inner>.elementor-widget-toggle,.e-con>.elementor-widget-toggle{width:var(--container-widget-width);--flex-grow:var(--container-widget-flex-grow)}<\/style>\t\t<div class=\"elementor-toggle\">\n\t\t\t\t\t\t\t<div class=\"elementor-toggle-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-1891\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-1891\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon elementor-toggle-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-closed\"><i class=\"fas fa-caret-right\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-opened\"><i class=\"elementor-toggle-icon-opened fas fa-caret-up\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-toggle-title\" tabindex=\"0\"><em>The reference centre is composed...<\/em><\/a>\n\t\t\t\t\t<\/div>\n\n\t\t\t\t\t<div id=\"elementor-tab-content-1891\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-1891\"><p><em>The reference centre is composed of a multidisciplinary team specialised in diagnosis and management of rare diseases with developmental disorders. The duties of the centre are:<br \/><\/em><\/p><p><em><strong>The duties of the centre are :<\/strong><\/em><\/p><ul><li><em>Ensure diagnosis and coordination of care<\/em><\/li><li><em>Organise and participate in research projects (fundamental, clinical, epidemiological)<\/em><\/li><li><em>Promote education and training<\/em><\/li><\/ul><p><em><strong>The centre is a member :<\/strong><\/em><\/p><ul><li><em>Of the West inter-regional network of France for developmental disorders<\/em><\/li><li><em>Of the French National Rare Disease Network AnDDI-Rares<\/em><\/li><\/ul><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-2e0916bc elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"2e0916bc\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-3a094600\" data-id=\"3a094600\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-677b6b37 elementor-widget elementor-widget-image\" data-id=\"677b6b37\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t<figure class=\"wp-caption\">\n\t\t\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" width=\"483\" height=\"190\" src=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/pathologies.png\" class=\"attachment-large size-large wp-image-368\" alt=\"\" srcset=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/pathologies.png 483w, https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/pathologies-300x118.png 300w\" sizes=\"(max-width: 483px) 100vw, 483px\" \/>\t\t\t\t\t\t\t\t\t\t\t<figcaption class=\"widget-image-caption wp-caption-text\">PATHOLOGIES CONCERN\u00c9ES<\/figcaption>\n\t\t\t\t\t\t\t\t\t\t<\/figure>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-73aa098a elementor-widget elementor-widget-toggle\" data-id=\"73aa098a\" data-element_type=\"widget\" data-widget_type=\"toggle.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-toggle\">\n\t\t\t\t\t\t\t<div class=\"elementor-toggle-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-1941\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-1941\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon elementor-toggle-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-closed\"><i class=\"fas fa-caret-right\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-opened\"><i class=\"elementor-toggle-icon-opened fas fa-caret-up\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-toggle-title\" tabindex=\"0\"><span style=\"text-transform: uppercase\"><strong>Pathologies concern\u00e9es<\/strong><\/span><\/a>\n\t\t\t\t\t<\/div>\n\n\t\t\t\t\t<div id=\"elementor-tab-content-1941\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-1941\"><p><strong>QUE SIGNIFIE ANOMALIES DU D\u00c9VELOPPEMENT ET SYNDROMES MALFORMATIFS ?<\/strong><\/p><p>Les anomalies du d\u00e9veloppement incluent, de mani\u00e8re isol\u00e9e ou associ\u00e9e, les manifestations suivantes :<\/p><ul><li>Les troubles du neurod\u00e9veloppement (retard des acquisitions psychomotrices, trouble du d\u00e9veloppement intellectuel, trouble du spectre de l\u2019autisme)<\/li><li>Les malformations isol\u00e9es ou multiples (cardiaques, uro-g\u00e9nitales, digestives, c\u00e9r\u00e9brales, anomalies des membres, etc.)<\/li><li>Les troubles de la croissance staturo-pond\u00e9rale (taille et poids)<\/li><li>Les syndromes dysmorphiques, caract\u00e9ris\u00e9s par des particularit\u00e9s du d\u00e9veloppement craniofacial<\/li><\/ul><p><strong>COMBIEN DE PERSONNES SONT ATTEINTES DE CES MALADIES ?<\/strong><\/p><p>Les anomalies du d\u00e9veloppement repr\u00e9sentent un groupe important de maladies rares et parfois tr\u00e8s extr\u00eamement rares (quelques cas connus dans le monde).<\/p><p>Une maladie est dite rare quand elle atteint moins d\u2019une personne sur 2 000.<\/p><p>Malgr\u00e9 leurs raret\u00e9s individuelles, elles repr\u00e9sentent un probl\u00e8me majeur de sant\u00e9 publique (12 000 \u00e0 24 000 naissances par an sont concern\u00e9es en France).<\/p><p><strong>\u00c0 QUOI SONT-ELLES DUES ?<\/strong><\/p><p>Les anomalies du d\u00e9veloppement sont le plus souvent dues \u00e0 des variations g\u00e9n\u00e9tiques (h\u00e9rit\u00e9es ou survenant uniquement chez l\u2019individu concern\u00e9) sur des g\u00e8nes du d\u00e9veloppement, et plus rarement \u00e0 des facteurs environnementaux (toxiques, m\u00e9dicaments, drogues, etc.), ou li\u00e9es \u00e0 des m\u00e9canismes complexes.\u00a0<\/p><p><strong>QUEL EST L\u2019IMPACT DU DIAGNOSTIC POUR LE PATIENT ET SA FAMILLE ?<\/strong><\/p><p>L&#8217;identification sp\u00e9cifique d&#8217;une anomalie du d\u00e9veloppement d&#8217;origine g\u00e9n\u00e9tique permet, par une <strong>meilleure connaissance de l&#8217;histoire naturelle et du pronostic \u00e9volutif, d&#8217;adapter la prise en charge et la surveillance aux besoins des patients<\/strong>.<\/p><p>Elle permet \u00e9galement d&#8217;apporter une explication aux familles, de pr\u00e9ciser le conseil g\u00e9n\u00e9tique et le risque de r\u00e9cidive dans la famille, ainsi que d\u2019exposer les options \u00e9ventuelles de diagnostic pr\u00e9natal et pr\u00e9implantatoire.\u00a0<\/p><p>L\u2019identification d\u2019un diagnostic pr\u00e9cis permet \u00e9galement la mise en relation des familles avec les organisations de patients. Par ailleurs, Le d\u00e9veloppement de traitements sp\u00e9cifiques dans le domaine des maladies rares d&#8217;origine g\u00e9n\u00e9tique est en pleine expansion et l\u2019identification d\u2019un diagnostic pr\u00e9cis est tr\u00e8s souvent un pr\u00e9requis pour participer aux essais cliniques.<\/p><p>Plus d\u2019informations sur les maladies rares :<\/p><ul><li><a style=\"background-color: #ffffff; font-size: 1rem;\" href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/index.php?lng=FR\" target=\"_blank\" rel=\"noopener\">https:\/\/www.orpha.net\/consor\/cgi-bin\/index.php?lng=FR<\/a><\/li><\/ul><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-5cba2da8 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"5cba2da8\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-2223d3b5\" data-id=\"2223d3b5\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-4150c4b8 elementor-widget elementor-widget-image\" data-id=\"4150c4b8\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t<figure class=\"wp-caption\">\n\t\t\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" width=\"300\" height=\"300\" src=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/equipe-300x300-1-300x300.png\" class=\"attachment-medium size-medium wp-image-366\" alt=\"\" srcset=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/equipe-300x300-1.png 300w, https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/equipe-300x300-1-150x150.png 150w, https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/equipe-300x300-1-40x40.png 40w\" sizes=\"(max-width: 300px) 100vw, 300px\" \/>\t\t\t\t\t\t\t\t\t\t\t<figcaption class=\"widget-image-caption wp-caption-text\">L'\u00c9QUIPE<\/figcaption>\n\t\t\t\t\t\t\t\t\t\t<\/figure>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-3883e69f elementor-widget elementor-widget-toggle\" data-id=\"3883e69f\" data-element_type=\"widget\" data-widget_type=\"toggle.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-toggle\">\n\t\t\t\t\t\t\t<div class=\"elementor-toggle-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-9481\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-9481\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon elementor-toggle-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-closed\"><i class=\"fas fa-caret-right\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-opened\"><i class=\"elementor-toggle-icon-opened fas fa-caret-up\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-toggle-title\" tabindex=\"0\"><span style=\"text-transform: uppercase\"><strong>L'\u00e9quipe<\/strong><\/span><\/a>\n\t\t\t\t\t<\/div>\n\n\t\t\t\t\t<div id=\"elementor-tab-content-9481\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-9481\"><p><strong>\u00c9quipe m\u00e9dicale :<\/strong><\/p><ul><li>Dr Marie-Line JACQUEMONT &#8211; G\u00e9n\u00e9ticien &#8211; M\u00e9decin Coordonnateur du Centre<\/li><li>Dr St\u00e9phanie ARPIN &#8211; P\u00e9diatre<\/li><li>Dr Lara KERBELLEC &#8211; G\u00e9n\u00e9ticienne<\/li><\/ul><p><strong>\u00c9quipe param\u00e9dicale :<\/strong><\/p><ul><li>Mme Catherine TOUATI &#8211; Psychologue<\/li><li>Mme Soizic LEBRUN \u2013 Conseill\u00e8re G\u00e9n\u00e9tique<\/li><li>Mme C\u00e9line MARETHEU &#8211; Secr\u00e9taire<\/li><li>Mme La\u00ebtitia CASTILLO \u2013 Secr\u00e9taire<\/li><li>Mme Marie-C\u00e9cile BASTARD \u2013 Secr\u00e9taire<\/li><\/ul><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-64323447 elementor-widget elementor-widget-accordion\" data-id=\"64323447\" data-element_type=\"widget\" data-widget_type=\"accordion.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.23.0 - 15-07-2024 *\/\n.elementor-accordion{text-align:start}.elementor-accordion .elementor-accordion-item{border:1px solid #d5d8dc}.elementor-accordion .elementor-accordion-item+.elementor-accordion-item{border-top:none}.elementor-accordion .elementor-tab-title{margin:0;padding:15px 20px;font-weight:700;line-height:1;cursor:pointer;outline:none}.elementor-accordion .elementor-tab-title .elementor-accordion-icon{display:inline-block;width:1.5em}.elementor-accordion .elementor-tab-title .elementor-accordion-icon svg{width:1em;height:1em}.elementor-accordion .elementor-tab-title .elementor-accordion-icon.elementor-accordion-icon-right{float:right;text-align:right}.elementor-accordion .elementor-tab-title .elementor-accordion-icon.elementor-accordion-icon-left{float:left;text-align:left}.elementor-accordion .elementor-tab-title .elementor-accordion-icon .elementor-accordion-icon-closed{display:block}.elementor-accordion .elementor-tab-title .elementor-accordion-icon .elementor-accordion-icon-opened,.elementor-accordion .elementor-tab-title.elementor-active .elementor-accordion-icon-closed{display:none}.elementor-accordion .elementor-tab-title.elementor-active .elementor-accordion-icon-opened{display:block}.elementor-accordion .elementor-tab-content{display:none;padding:15px 20px;border-top:1px solid #d5d8dc}@media (max-width:767px){.elementor-accordion .elementor-tab-title{padding:12px 15px}.elementor-accordion .elementor-tab-title .elementor-accordion-icon{width:1.2em}.elementor-accordion .elementor-tab-content{padding:7px 15px}}.e-con-inner>.elementor-widget-accordion,.e-con>.elementor-widget-accordion{width:var(--container-widget-width);--flex-grow:var(--container-widget-flex-grow)}<\/style>\t\t<div class=\"elementor-accordion\">\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-1681\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-1681\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Pour prendre rendez vous :<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-1681\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-1681\"><p>Pour prendre rendez-vous:<\/p><p><strong>H\u00f4pital Bretonneau &#8211; B\u00e2timent Olympe de Gouges<\/strong> (RDC)<\/p><ul><li>T\u00e9l : <span style=\"color: #ed1164; font-size: 14pt;\"><strong>02 47 47 47 99<\/strong><\/span><\/li><li><a href=\"mailto:genetique.clinique@chu-tours.fr\">genetique.clinique@chu-tours.fr<\/a><\/li><\/ul><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-131b820 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"131b820\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-18066f6c\" data-id=\"18066f6c\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-618272bf elementor-widget elementor-widget-image\" data-id=\"618272bf\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t<figure class=\"wp-caption\">\n\t\t\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" width=\"300\" height=\"240\" src=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/recherche-300x240-2.png\" class=\"attachment-medium size-medium wp-image-371\" alt=\"\" \/>\t\t\t\t\t\t\t\t\t\t\t<figcaption class=\"widget-image-caption wp-caption-text\">PROTOCOLES EN COURS<\/figcaption>\n\t\t\t\t\t\t\t\t\t\t<\/figure>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5c63b540 elementor-widget elementor-widget-toggle\" data-id=\"5c63b540\" data-element_type=\"widget\" data-widget_type=\"toggle.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-toggle\">\n\t\t\t\t\t\t\t<div class=\"elementor-toggle-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-1551\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-1551\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon elementor-toggle-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-closed\"><i class=\"fas fa-caret-right\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-opened\"><i class=\"elementor-toggle-icon-opened fas fa-caret-up\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-toggle-title\" tabindex=\"0\"><span style=\"text-transform: uppercase\"><strong>Protocoles en cours<\/strong><\/span><\/a>\n\t\t\t\t\t<\/div>\n\n\t\t\t\t\t<div id=\"elementor-tab-content-1551\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-1551\"><ul><li><b>Recherche <\/b><b>fondamentale <\/b>dans le cadre de l\u2019unit\u00e9 de recherche UMR 1253, iBrain, Inserm, Tours : <br \/>Nos travaux visent \u00e0 identifier et \u00e0 caract\u00e9riser de nouveaux g\u00e8nes impliqu\u00e9s dans les troubles du neurod\u00e9veloppement. Notre approche par neurog\u00e9nomique fonctionnelle combine des donn\u00e9es cliniques, mol\u00e9culaires et fonctionnelles (mod\u00e8les neuronaux en particulier).<\/li><li>Lien vers l\u2019\u00e9quipe INSERM : <a href=\"https:\/\/ibrain.univ-tours.fr\/version-francaise\/neurogenomique-physiopathologie-neuronale\" target=\"_blank\" rel=\"noopener\">https:\/\/ibrain.univ-tours.fr\/version-francaise\/neurogenomique-physiopathologie-neuronale<\/a><\/li><\/ul><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-b4015d9 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"b4015d9\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-inner-column elementor-element elementor-element-3912a39\" data-id=\"3912a39\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-4a7aede elementor-widget elementor-widget-image\" data-id=\"4a7aede\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" width=\"434\" height=\"128\" src=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2024\/05\/logo-inserm.png\" class=\"attachment-large size-large wp-image-2212\" alt=\"logo INSERM\" srcset=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2024\/05\/logo-inserm.png 434w, https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2024\/05\/logo-inserm-300x88.png 300w\" sizes=\"(max-width: 434px) 100vw, 434px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-inner-column elementor-element elementor-element-c78b8eb\" data-id=\"c78b8eb\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap\">\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-inner-column elementor-element elementor-element-ed8520c\" data-id=\"ed8520c\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-27f1550 elementor-widget elementor-widget-image\" data-id=\"27f1550\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" width=\"484\" height=\"208\" src=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2024\/05\/logo-ibrain.png\" class=\"attachment-large size-large wp-image-2214\" alt=\"Logo IBRAIN\" srcset=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2024\/05\/logo-ibrain.png 484w, https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2024\/05\/logo-ibrain-300x129.png 300w\" sizes=\"(max-width: 484px) 100vw, 484px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-1bb59a30 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"1bb59a30\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-3cc36e06\" data-id=\"3cc36e06\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-1c211fa9 elementor-widget elementor-widget-image\" data-id=\"1c211fa9\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t<figure class=\"wp-caption\">\n\t\t\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" width=\"300\" height=\"263\" src=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/enseignement-300x263-1.png\" class=\"attachment-medium size-medium wp-image-365\" alt=\"\" \/>\t\t\t\t\t\t\t\t\t\t\t<figcaption class=\"widget-image-caption wp-caption-text\">ENSEIGNEMENT<\/figcaption>\n\t\t\t\t\t\t\t\t\t\t<\/figure>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-1f8da296 elementor-widget elementor-widget-toggle\" data-id=\"1f8da296\" data-element_type=\"widget\" data-widget_type=\"toggle.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-toggle\">\n\t\t\t\t\t\t\t<div class=\"elementor-toggle-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-5291\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-5291\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon elementor-toggle-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-closed\"><i class=\"fas fa-caret-right\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-opened\"><i class=\"elementor-toggle-icon-opened fas fa-caret-up\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-toggle-title\" tabindex=\"0\"><span style=\"text-transform: uppercase\"><strong>Enseignement<\/strong><\/span><\/a>\n\t\t\t\t\t<\/div>\n\n\t\t\t\t\t<div id=\"elementor-tab-content-5291\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-5291\"><h4>Formations Universitaires :<\/h4><ul><li>Formation des internes du 3\u00e8me cycle (DES de G\u00e9n\u00e9tique et DES de P\u00e9diatrie principalement)<\/li><li>Formations Sp\u00e9cialis\u00e9es Transversales de G\u00e9n\u00e9tique et M\u00e9decine Mol\u00e9culaire Bioclinique<\/li><li>Formations Sp\u00e9cialis\u00e9es Transversales de F\u0153topathologie<\/li><\/ul><h4>Formations Post-Universitaires :<\/h4><ul><li>DIU Maladies Rares<\/li><li>DIU de Dysmorphologie\u00a0<\/li><li>DU de Maladies Osseuses Constitutionnelles<\/li><li>DIU de Pathologie f\u0153tale et placentaire<\/li><li>DU S\u00e9quen\u00e7age haut d\u00e9bit et maladies g\u00e9n\u00e9tiques<\/li><li>DIU diagnostic de pr\u00e9cision et m\u00e9decine personnalis\u00e9e<\/li><li>AEU Trisomie 21<\/li><\/ul><p><br \/>&gt;&gt; Retrouvez toutes les informations li\u00e9es \u00e0 ces enseignements sur : <a href=\"https:\/\/anddi-rares.org\/formations\/\" target=\"_blank\" rel=\"noopener\">https:\/\/anddi-rares.org\/formations\/<\/a><\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-63b13735 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"63b13735\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-3889e675\" data-id=\"3889e675\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-6a5f8656 elementor-widget elementor-widget-image\" data-id=\"6a5f8656\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t<figure class=\"wp-caption\">\n\t\t\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" width=\"300\" height=\"212\" src=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/outils-300x212-1.png\" class=\"attachment-medium size-medium wp-image-367\" alt=\"\" \/>\t\t\t\t\t\t\t\t\t\t\t<figcaption class=\"widget-image-caption wp-caption-text\">OUTILS<\/figcaption>\n\t\t\t\t\t\t\t\t\t\t<\/figure>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-632bf32c elementor-widget elementor-widget-toggle\" data-id=\"632bf32c\" data-element_type=\"widget\" data-widget_type=\"toggle.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-toggle\">\n\t\t\t\t\t\t\t<div class=\"elementor-toggle-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-1661\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-1661\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon elementor-toggle-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-closed\"><i class=\"fas fa-caret-right\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-opened\"><i class=\"elementor-toggle-icon-opened fas fa-caret-up\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-toggle-title\" tabindex=\"0\"><span style=\"text-transform: uppercase\"><strong>Outils<\/strong><\/span><\/a>\n\t\t\t\t\t<\/div>\n\n\t\t\t\t\t<div id=\"elementor-tab-content-1661\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-1661\"><h4>Protocoles Nationaux de Diagnostic et de Soins (PNDS)<\/h4><p><strong>D\u00e9finition HAS :<\/strong><\/p><p><em><strong>L\u2019objectif d\u2019un PNDS<\/strong> est d\u2019expliciter aux professionnels concern\u00e9s la prise en charge diagnostique et th\u00e9rapeutique optimale actuelle et le parcours de soins d\u2019un patient atteint d\u2019une maladie rare donn\u00e9e. Il a pour but d\u2019optimiser et d\u2019harmoniser la prise en charge et le suivi de la maladie rare sur l\u2019ensemble du territoire.<\/em><\/p><p><em>Le PNDS peut servir de r\u00e9f\u00e9rence au m\u00e9decin traitant (m\u00e9decin d\u00e9sign\u00e9 par le patient aupr\u00e8s de la Caisse d\u2019Assurance Maladie) en concertation avec le m\u00e9decin sp\u00e9cialiste notamment au moment d\u2019\u00e9tablir le protocole de soins conjointement avec le m\u00e9decin conseil et le patient, dans le cas d&#8217;une demande d&#8217;exon\u00e9ration du ticket mod\u00e9rateur au titre d&#8217;une affection hors liste.<\/em><\/p><ul><li>Retrouvez l\u2019ensemble des PNDS par pathologies en cliquant sur le lien ci-dessous : <br \/><a href=\"https:\/\/www.has-sante.fr\/jcms\/c_1340879\/fr\/protocoles-nationaux-de-diagnostic-et-de-soins-pnds\" target=\"_blank\" rel=\"noopener\">https:\/\/www.has-sante.fr\/jcms\/c_1340879\/fr\/protocoles-nationaux-de-diagnostic-et-de-soins-pnds<\/a><\/li><\/ul><h4>Recommandations de Bonnes Pratiques<\/h4><ul><li><strong>Protocole type d&#8217;examen autopsique foetal ou n\u00e9onatal<\/strong><br \/><a href=\"https:\/\/www.has-sante.fr\/jcms\/c_1747470\/fr\/protocole-type-d-examen-autopsique-foetal-ou-neonatal\">https:\/\/www.has-sante.fr\/jcms\/c_1747470\/fr\/protocole-type-d-examen-autopsique-foetal-ou-neonatal<\/a><\/li><li><strong>Clinical utility gene card for Simpson-Golabi-Behmel syndrome (SGBS)<\/strong> European Journal of Human Genetics ( janvier 2019)<\/li><li><strong>Clinical utility gene card for : DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1)<\/strong>. Eur J Hum Genet. 2010 Sep<\/li><li><strong>Practical guidelines for managing patients with 22q11.2 deletion syndrome<\/strong>. J Pediatr. 2011 Aug<\/li><li><strong>Recommandations nationales de bonnes pratiques du test pr\u00e9symptomatique chez les mineurs<\/strong> Arch Pediatr. 2010 Jul<\/li><li><strong>Recommandations pour le bilan \u00e9tiologique de la d\u00e9ficience intellectuelle non expliqu\u00e9e<\/strong> Arch Pediatr. 2012 Feb<\/li><li><strong>Protocole d&#8217;annonce <\/strong>(<a href=\"https:\/\/anddi-rares.org\/wp-content\/uploads\/2022\/11\/protocole-annonce.pdf\" target=\"_blank\" rel=\"noopener\">AnDDI-Rares<\/a>)<\/li><li><strong>R\u00e8gles de bonnes pratiques en g\u00e9n\u00e9tique constitutionnelle \u00e0 des fins m\u00e9dicales<\/strong> (Hors recherche) &#8211; <a href=\"https:\/\/anddi-rares.org\/wp-content\/uploads\/2022\/11\/guide-bonnes-pratiques-genetique.pdf\" target=\"_blank\" rel=\"noopener\">AnDDI-Rares<\/a><\/li><\/ul><h4>Formations syndromiques AnDDI-Rares<\/h4><ul><li><strong>Syndrome de Williams et Beuren ; Syndrome de Noonan et Syndrome de Kabuki<\/strong> : <a href=\"https:\/\/formation.anddi-rares.org\/accueil-formation-syndromes\/\" target=\"_blank\" rel=\"noopener\">https:\/\/formation.anddi-rares.org\/accueil-formation-syndromes\/<\/a><\/li><li><strong>Syndrome d\u2019Angelman ; Syndrome X-Fragile ; Trisomie 21 (Syndrome de Down); Syndrome de Joubert et D\u00e9ficience intellectuelle<\/strong> : <a href=\"https:\/\/numerique.defiscience.fr\/accueil-formation-sg\" target=\"_blank\" rel=\"noopener\">https:\/\/numerique.defiscience.fr\/accueil-formation-sg<\/a><\/li><\/ul><h4>Carte d&#8217;urgence<\/h4><p>58 cartes d\u2019urgence ont \u00e9t\u00e9 produites\u00a0et sont disponibles dans les\u00a0centres AnDDI-Rares\u00a0et\/ou aupr\u00e8s de l\u2019association correspondante ou de la fili\u00e8re AnDDI-Rares.<\/p><ul><li>Retrouvez-les ici : <a href=\"https:\/\/anddi-rares.org\/pnds-cartes-urgence-et-protocoles\/\" target=\"_blank\" rel=\"noopener\">PNDS, cartes d&#8217;urgence et protocoles &#8211; AnDDI-Rares<\/a><\/li><\/ul><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-ab195bd elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"ab195bd\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-16e05de1\" data-id=\"16e05de1\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-4062a094 elementor-widget elementor-widget-image\" data-id=\"4062a094\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t<figure class=\"wp-caption\">\n\t\t\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" width=\"300\" height=\"192\" src=\"https:\/\/www.chu-tours.fr\/pemr-cvl\/wp-content\/uploads\/sites\/15\/2023\/02\/liens-300x192-1.png\" class=\"attachment-medium size-medium wp-image-370\" alt=\"\" \/>\t\t\t\t\t\t\t\t\t\t\t<figcaption class=\"widget-image-caption wp-caption-text\">LIENS<\/figcaption>\n\t\t\t\t\t\t\t\t\t\t<\/figure>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-3250ded5 elementor-widget elementor-widget-toggle\" data-id=\"3250ded5\" data-element_type=\"widget\" data-widget_type=\"toggle.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-toggle\">\n\t\t\t\t\t\t\t<div class=\"elementor-toggle-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-8441\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-8441\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon elementor-toggle-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-closed\"><i class=\"fas fa-caret-right\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-opened\"><i class=\"elementor-toggle-icon-opened fas fa-caret-up\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-toggle-title\" tabindex=\"0\"><span style=\"text-transform: uppercase\"><strong>Liens<\/strong><\/span><\/a>\n\t\t\t\t\t<\/div>\n\n\t\t\t\t\t<div id=\"elementor-tab-content-8441\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-8441\"><p style=\"text-align: center;\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-5057\" src=\"https:\/\/www.chu-tours.fr\/wp-content\/uploads\/2020\/01\/logo-anddi-rares.jpg\" alt=\"\" width=\"153\" height=\"154\" \/><\/p><h4>Fili\u00e8re de sant\u00e9<\/h4><ul><li><strong>AnDDI-Rares Fili\u00e8re de Sant\u00e9 Anomalies du D\u00e9veloppement avec ou sans D\u00e9ficience Intellectuelle de causes Rares<\/strong><br \/><a href=\"http:\/\/anddi-rares.org\/\" target=\"_blank\" rel=\"noopener\">http:\/\/anddi-rares.org\/<\/a><\/li><\/ul><h4>Soci\u00e9t\u00e9s Savantes<\/h4><ul><li><strong>AChro-Puce R\u00e9seau d\u2019analyse chromosomique sur puces \u00e0 ADN<\/strong><br \/><a href=\"http:\/\/www.renapa.univ-montp1.fr\" target=\"_blank\" rel=\"noopener\">http:\/\/www.renapa.univ-montp1.fr<\/a><\/li><li><strong>ACLF Association des Cytog\u00e9n\u00e9ticiens de Langue Fran\u00e7aise<\/strong><br \/><a href=\"http:\/\/www.eaclf.org\/\" target=\"_blank\" rel=\"noopener\">http:\/\/www.eaclf.org\/<\/a><\/li><li><strong>AFCG Association Fran\u00e7aise des Conseillers en G\u00e9n\u00e9tique<br \/><\/strong> <a href=\"http:\/\/af-cg.fr\/\" target=\"_blank\" rel=\"noopener\">http:\/\/af-cg.fr\/<\/a><\/li><li><strong>AFGC Association francophone de g\u00e9n\u00e9tique clinique<\/strong><br \/><a href=\"http:\/\/af-gc.fr\/\" target=\"_blank\" rel=\"noopener\">http:\/\/af-gc.fr\/<\/a><\/li><li><strong>ANPGM Association Nationale des Praticiens de G\u00e9n\u00e9tique Mol\u00e9culaire<\/strong><br \/><a href=\"https:\/\/anpgm.fr\/\" target=\"_blank\" rel=\"noopener\">https:\/\/anpgm.fr\/<\/a><\/li><li><strong>FeCLAD F\u00e9d\u00e9ration des Centres Labellis\u00e9s Anomalies du D\u00e9veloppement<br \/><\/strong> <a href=\"http:\/\/www.feclad.org\/\" target=\"_blank\" rel=\"noopener\">http:\/\/www.feclad.org\/<\/a><\/li><li><strong>FFGH F\u00e9d\u00e9ration Fran\u00e7aise de G\u00e9n\u00e9tique Humaine<br \/><\/strong> <a href=\"https:\/\/www.ffgh.net\/\" target=\"_blank\" rel=\"noopener\">https:\/\/www.ffgh.net\/<\/a><\/li><li><strong>SFMPP Soci\u00e9t\u00e9 Fran\u00e7aise de M\u00e9decine Pr\u00e9dictive et Personnalis\u00e9e<\/strong><br \/><a href=\"https:\/\/www.sfmpp.org\/\" target=\"_blank\" rel=\"noopener\">https:\/\/www.sfmpp.org\/<\/a><\/li><li><strong>SIGF Soci\u00e9t\u00e9 des Internes en G\u00e9n\u00e9tique de France<\/strong><br \/><a href=\"https:\/\/interne-genetique.org\/\" target=\"_blank\" rel=\"noopener\">https:\/\/interne-genetique.org\/<\/a><\/li><li><strong>SOFFOET Soci\u00e9t\u00e9 fran\u00e7aise de F\u0153topathologie<\/strong><br \/><a href=\"http:\/\/soffoet.fr\/\" target=\"_blank\" rel=\"noopener\">http:\/\/soffoet.fr\/<\/a><\/li><\/ul><h4>Les Associations de patients<\/h4><ul><li>Pour plus d\u2019informations sur les <strong>89 associations<\/strong> : <a href=\"https:\/\/anddi-rares.org\/accueil\/annuaire\/?structure_type%5B%5D=associations-partenaires\" target=\"_blank\" rel=\"noopener\">https:\/\/anddi-rares.org\/accueil\/annuaire\/?structure_type%5B%5D=associations-partenaires<\/a><\/li><\/ul><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>Centre de R\u00e9f\u00e9rence Constitutif des Anomalies du D\u00e9veloppement et Syndromes Malformatifs de L\u2019Ouest Le Centre de r\u00e9f\u00e9rence constitutif est compos\u00e9 d\u2019une \u00e9quipe pluridisciplinaire sp\u00e9cialis\u00e9e : Ses missions : Assurer le diagnostic et la coordination des soins Coordonner et participer \u00e0 des projets de recherche (fondamentales, cliniques, \u00e9pid\u00e9miologiques) Promouvoir l\u2019enseignement et la formation (universitaire et post-universitaire) [&hellip;]<\/p>\n","protected":false},"author":4,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_seopress_robots_primary_cat":"","_seopress_titles_title":"Centre de R\u00e9f\u00e9rence Constitutif des Anomalies du D\u00e9veloppement et Syndromes Malformatifs de L\u2019Ouest","_seopress_titles_desc":"Le Centre de r\u00e9f\u00e9rence constitutif est compos\u00e9 d\u2019une \u00e9quipe pluridisciplinaire sp\u00e9cialis\u00e9e dans la prise en charge des anomalies du d\u00e9veloppement et des syndromes malformatifs. 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