{"id":84244,"date":"2024-11-15T15:58:55","date_gmt":"2024-11-15T06:58:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/"},"modified":"2025-10-16T11:56:13","modified_gmt":"2025-10-16T02:56:13","slug":"17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/?lang=en","title":{"rendered":"17p13.1 Deletion Syndrome (Miller-Dieker Syndrome) \/ Miller-Dieker Lissencephaly Syndrome (MDLS) (Loss)"},"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\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/?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\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/?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\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/?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\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/?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\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/?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>Miller-Dieker syndrome (MDS) and Miller-Dieker lissencephaly syndrome (MDLS) are caused by a genetic deletion in the short arm of chromosome 17 (17p13.1 region). This causes the brain to develop abnormally, resulting in an abnormality of the cerebral cortex called lissencephaly. Normally, nerve cells are not positioned correctly during brain formation, severely affecting neurodevelopment and function.<\/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>Lissencephaly<\/strong>&nbsp;: The brain has a smooth surface with few normal grooves and turns, resulting in severe intellectual disability.<\/li>\n\n\n\n<li><strong>Developmental delay<\/strong>&nbsp;: There is significant delay in motor and language development.<\/li>\n\n\n\n<li><strong>Epileptic seizures<\/strong>&nbsp;: Severe epileptic seizures may occur frequently from the newborn period.<\/li>\n\n\n\n<li><strong>Distinctive facial features<\/strong>&nbsp;: Distinctive facial features may be present, including a high forehead, long narrow face, short nose, and thin lips.<\/li>\n\n\n\n<li><strong>Muscle weakness and abnormal<\/strong>&nbsp;muscle tone may be present.<\/li>\n\n\n\n<li><strong>Internal organ abnormalities<\/strong>&nbsp;: Cardiac and renal abnormalities have been reported in some patients.<\/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>Epilepsy management<\/strong>&nbsp;: Treatment involves the use of antiepileptic drugs to reduce the frequency of seizures.<\/li>\n\n\n\n<li><strong>Developmental support<\/strong>&nbsp;: Development is supported through physical therapy, occupational therapy, speech therapy, etc., but the effectiveness of the therapy may vary depending on the level of progression.<\/li>\n\n\n\n<li><strong>Nutritional management<\/strong>&nbsp;: Feeding difficulties may be present and nutritional management may be required.<\/li>\n\n\n\n<li><strong>Comprehensive medical team management<\/strong>&nbsp;: We provide care in collaboration with doctors from multiple specialties, including neurology, cardiology, and gastroenterology.<\/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>Miller-Dieker syndrome is a severe disease with a poor prognosis for most people. It requires ongoing management of epilepsy seizures and treatment of systemic complications, which can impact on the lifespan of patients. It is usually accompanied by severe intellectual disability and physical problems.<\/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>This disease requires long-term treatment and care, and it places a huge financial and mental burden on the parents. Because parents have to spend a lot of time caring for their children on a daily basis, it requires a support system for the whole family. It is important to cooperate with medical teams and support organizations to reduce the burden on families.<\/p>\n","protected":false},"excerpt":{"rendered":"1. Causes of the dis&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":88626,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-84244","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\/84244","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=84244"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84244\/revisions"}],"predecessor-version":[{"id":118322,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84244\/revisions\/118322"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/88626"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=84244"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=84244"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=84244"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}