{"id":84485,"date":"2024-11-14T14:26:50","date_gmt":"2024-11-14T05:26:50","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/kleefstra-syndrome-1-klefs1\/"},"modified":"2025-10-10T18:09:19","modified_gmt":"2025-10-10T09:09:19","slug":"kleefstra-syndrome-1-klefs1","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/kleefstra-syndrome-1-klefs1\/?lang=en","title":{"rendered":"Kleefstra Syndrome 1 (KLEFS1)"},"content":{"rendered":"\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/kleefstra-syndrome-1-klefs1\/?lang=en\/#1_Causes_of_the_disease\" >1. Causes of the disease<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/kleefstra-syndrome-1-klefs1\/?lang=en\/#2_Symptoms\" >2. Symptoms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/kleefstra-syndrome-1-klefs1\/?lang=en\/#3_Treatment\" >3. Treatment<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/kleefstra-syndrome-1-klefs1\/?lang=en\/#4_Prognosis\" >4. Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/kleefstra-syndrome-1-klefs1\/?lang=en\/#5_The_burden_on_parents\" >5. The burden on parents<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_Causes_of_the_disease\"><\/span>1. Causes of the disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Kleefstra syndrome 1 (KLEFS1) is a genetic disorder caused by mutations or deletions in the EHMT1 gene on chromosome 9. This gene is involved in regulating nervous system development and gene expression, and mutations in the gene disrupt normal neurodevelopment. It often arises from a de novo mutation, but can also be inherited genetically.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_Symptoms\"><\/span>2. Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Developmental delays<\/strong>&nbsp;: Development of language, motor and social skills is often delayed.<\/li>\n\n\n\n<li><strong>Intellectual disability<\/strong>&nbsp;: People may have mild to severe intellectual disabilities and need help with learning and daily activities.<\/li>\n\n\n\n<li><strong>Behavioral abnormalities<\/strong>&nbsp;: Autism spectrum related behaviors, hyperactivity and attention deficits may be seen.<\/li>\n\n\n\n<li><strong>Characteristic facial features<\/strong>&nbsp;: Characteristic facial features such as narrow palpebrals, thick eyebrows, and a protruding upper lip may be present.<\/li>\n\n\n\n<li><strong>Cardiac and urinary abnormalities<\/strong>&nbsp;: Some patients may have abnormalities of the cardiac and urinary systems.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_Treatment\"><\/span>3. Treatment<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Developmental support and therapy<\/strong>&nbsp;: Speech, occupational and physical therapy are used.<\/li>\n\n\n\n<li><strong>Behavioral Therapy<\/strong>&nbsp;: Behavioral therapy and counseling are available to help with autism-related behaviors.<\/li>\n\n\n\n<li><strong>Medical Management<\/strong>&nbsp;: Appropriate treatment for visceral abnormalities is required.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_Prognosis\"><\/span>4. Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>It is expected that quality of life will improve with appropriate support and medical care, but prognosis varies depending on the severity of symptoms. Continuous support is necessary.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_The_burden_on_parents\"><\/span>5. The burden on parents<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Since long-term medical care and therapy are required, which can place a large burden on parents, it is important to establish an appropriate support system by utilizing specialized medical institutions and local support.<\/p>\n","protected":false},"excerpt":{"rendered":"1. Causes of the dis&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/kleefstra-syndrome-1-klefs1\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87399,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-84485","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84485","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=84485"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84485\/revisions"}],"predecessor-version":[{"id":117934,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84485\/revisions\/117934"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87399"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=84485"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=84485"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=84485"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}