{"id":85408,"date":"2024-11-14T14:24:16","date_gmt":"2024-11-14T05:24:16","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-nmlfs-22q11-2\/"},"modified":"2025-10-16T11:26:31","modified_gmt":"2025-10-16T02:26:31","slug":"nablus-mask-like-facial-syndrome-nmlfs-22q11-2","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-nmlfs-22q11-2\/?lang=en","title":{"rendered":"Trichorhinophalangeal Syndrome Type 2 (TRPS2) &#8211; 8q23-q24"},"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\/nablus-mask-like-facial-syndrome-nmlfs-22q11-2\/?lang=en\/#1_Cause_of_Disease\" >1. Cause of 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\/nablus-mask-like-facial-syndrome-nmlfs-22q11-2\/?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\/nablus-mask-like-facial-syndrome-nmlfs-22q11-2\/?lang=en\/#3_Medical_Treatment\" >3. Medical 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\/nablus-mask-like-facial-syndrome-nmlfs-22q11-2\/?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\/nablus-mask-like-facial-syndrome-nmlfs-22q11-2\/?lang=en\/#5_Burden_on_Parents\" >5. Burden on Parents<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_Cause_of_Disease\"><\/span>1. Cause of Disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>TRPS2 (hair, nose, and phalanges syndrome type 2) is caused by a genetic abnormality associated with a gene (TRPS1 gene) located on the long arm (8q23-q24) of chromosome 8. In TRPS2, chromosomal abnormalities (such as gene duplication or deletion) are usually responsible for the bone, soft tissue, and facial features and facial features. The disease is generally caused by new mutations.<\/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>Characteristic facial features<\/strong>: long, narrow nose, thin lips, wide eyebrows, etc.<\/li>\n\n\n\n<li><strong>Hair abnormalities<\/strong>: problems with fine hair, easy shedding, and slow growth.<\/li>\n\n\n\n<li><strong>Bone abnormalities<\/strong>: shortening and curvature of the fingers, limited range of motion of the joints, and delayed bone formation are characteristic. Growth retardation may also result in short stature.<\/li>\n\n\n\n<li><strong>Other:<\/strong> Intellectual developmental delays may occur in some patients.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_Medical_Treatment\"><\/span>3. Medical Treatment<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Developmental Support and Rehabilitation<\/strong>: Exercise and physical therapy are provided to help maintain range of motion of bones and joints.<\/li>\n\n\n\n<li><strong>Orthopedic treatment<\/strong>: Surgery of fingers and joints may be performed if necessary.<\/li>\n\n\n\n<li><strong>Hair management<\/strong>: Appropriate care and treatment may be provided to address hair-related issues.<\/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>Symptoms of TRPS2 vary greatly from person to person, and early treatment and medical support can improve quality of life. Bone abnormalities may progress with growth and require ongoing management.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_Burden_on_Parents\"><\/span>5. Burden on Parents<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Medical expenses and burdens related to medical care and education increase the time and financial burden on parents, especially when orthopedic surgery or long-term treatment is required. Cooperation with local support groups and specialist physicians is important.<\/p>\n","protected":false},"excerpt":{"rendered":"1. Cause of Disease &#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-nmlfs-22q11-2\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87827,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-85408","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\/85408","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=85408"}],"version-history":[{"count":5,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85408\/revisions"}],"predecessor-version":[{"id":118307,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85408\/revisions\/118307"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87827"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=85408"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=85408"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=85408"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}