{"id":122865,"date":"2026-01-15T12:35:12","date_gmt":"2026-01-15T03:35:12","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122865"},"modified":"2026-03-27T17:10:32","modified_gmt":"2026-03-27T08:10:32","slug":"congenital-contractures-limbs-face-hypotonia-developmental-delay-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/","title":{"rendered":"Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental delay"},"content":{"rendered":"\n<p>\u65b0\u751f\u5150\u671f\u306b\u8a8d\u3081\u3089\u308c\u308b\u300c\u5148\u5929\u6027\u591a\u767a\u95a2\u7bc0\u62d8\u7e2e\uff08Arthrogryposis Multiplex Congenita: AMC\uff09\u300d\u306e\u4e2d\u3067\u3082\u3001\u56db\u80a2\u3060\u3051\u3067\u306a\u304f<strong>\u9854\u9762\u306e\u62d8\u7e2e<\/strong>\u3092\u4f34\u3044\u3001\u3055\u3089\u306b<strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u3068\u767a\u9054\u9045\u6ede<\/strong>\u3092\u5448\u3059\u308b\u4e00\u7fa4\u306f\u3001\u8a3a\u65ad\u306b\u304a\u3044\u3066\u9ad8\u5ea6\u306a\u5c02\u9580\u6027\u304c\u6c42\u3081\u3089\u308c\u308b\u75c5\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u5358\u4e00\u306e\u75be\u60a3\u540d\u3067\u306f\u306a\u304f\u3001\u8907\u6570\u306e\u907a\u4f1d\u7684\u539f\u56e0\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7684\u8a18\u8ff0\u3067\u3042\u308b\u5834\u5408\u304c\u591a\u304f\u3001\u7279\u306b\u300c\u9060\u4f4d\u578b\u95a2\u7bc0\u62d8\u7e2e\u75c7\uff08Distal Arthrogryposis\uff09\u300d\u306e\u91cd\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3084\u3001\u7d30\u80de\u5185\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306e\u7570\u5e38\u306b\u95a2\u9023\u3059\u308b\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u3053\u306e\u8907\u96d1\u306a\u8868\u73fe\u578b\u306e\u80cc\u666f\u306b\u3042\u308b\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\u3068\u3001\u6700\u65b0\u306e\u81e8\u5e8a\u7ba1\u7406\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* 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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\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#1_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9A%E9%A1%94%E9%9D%A2%E3%81%A8%E5%9B%9B%E8%82%A2%E3%81%AE%E7%89%B9%E7%95%B0%E7%9A%84%E3%81%AA%E6%8B%98%E7%B8%AE\" >1. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u9854\u9762\u3068\u56db\u80a2\u306e\u7279\u7570\u7684\u306a\u62d8\u7e2e<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#%E9%A1%94%E9%9D%A2%E3%81%AE%E6%8B%98%E7%B8%AE%E3%81%A8%E5%BE%B4%E5%80%99\" >\u9854\u9762\u306e\u62d8\u7e2e\u3068\u5fb4\u5019<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#%E5%9B%9B%E8%82%A2%E3%81%AE%E6%8B%98%E7%B8%AE%E3%81%A8%E7%AD%8B%E7%B7%8A%E5%BC%B5\" >\u56db\u80a2\u306e\u62d8\u7e2e\u3068\u7b4b\u7dca\u5f35<\/a><\/li><\/ul><\/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\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#2_%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E5%88%86%E5%AD%90%E7%97%85%E6%85%8B\" >2. \u539f\u56e0\u907a\u4f1d\u5b50\u3068\u5206\u5b50\u75c5\u614b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#%E9%81%A0%E4%BD%8D%E5%9E%8B%E9%96%A2%E7%AF%80%E6%8B%98%E7%B8%AE%E7%97%87%EF%BC%88Distal_Arthrogryposis_DA%EF%BC%89\" >\u9060\u4f4d\u578b\u95a2\u7bc0\u62d8\u7e2e\u75c7\uff08Distal Arthrogryposis: DA\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#UNC80%E3%81%8A%E3%82%88%E3%81%B3NALP12%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3\" >UNC80\u304a\u3088\u3073NALP12\u95a2\u9023\u75be\u60a3<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#3_%E8%A8%BA%E6%96%AD%E3%81%B8%E3%81%AE%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81%EF%BC%9A%E7%94%BB%E5%83%8F%E3%83%BB%E7%94%9F%E7%90%86%E3%83%BB%E9%81%BA%E4%BC%9D\" >3. \u8a3a\u65ad\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\uff1a\u753b\u50cf\u30fb\u751f\u7406\u30fb\u907a\u4f1d<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#%E7%A5%9E%E7%B5%8C%E7%94%9F%E7%90%86%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u795e\u7d4c\u751f\u7406\u5b66\u7684\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#%E5%88%86%E5%AD%90%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#4_%E5%8C%85%E6%8B%AC%E7%9A%84%E6%B2%BB%E7%99%82%E3%81%A8%E3%82%B1%E3%82%A2%EF%BC%9A%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%83%81%E3%83%BC%E3%83%A0%E3%81%AE%E5%BD%B9%E5%89%B2\" >4. \u5305\u62ec\u7684\u6cbb\u7642\u3068\u30b1\u30a2\uff1a\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u306e\u5f79\u5272<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%83%BB%E5%BD%A2%E6%88%90%E7%9A%84%E4%BB%8B%E5%85%A5\" >\u6574\u5f62\u5916\u79d1\u7684\u30fb\u5f62\u6210\u7684\u4ecb\u5165<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%88PTOTST%EF%BC%89\" >\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08PT\/OT\/ST\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#%E9%BA%BB%E9%85%94%E7%AE%A1%E7%90%86%E3%81%AE%E6%B3%A8%E6%84%8F%E7%82%B9%EF%BC%88%E9%87%8D%E8%A6%81%EF%BC%89\" >\u9ebb\u9154\u7ba1\u7406\u306e\u6ce8\u610f\u70b9\uff08\u91cd\u8981\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#5_%E4%BA%88%E5%BE%8C%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AE%E8%B3%AA%E3%81%AE%E5%90%91%E4%B8%8A\" >5. \u4e88\u5f8c\u3068\u751f\u6d3b\u306e\u8cea\u306e\u5411\u4e0a<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E5%B1%95%E6%9C%9B\" >\u9577\u671f\u7684\u306a\u5c55\u671b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#%E7%A4%BE%E4%BC%9A%E7%9A%84%E3%83%BB%E6%95%99%E8%82%B2%E7%9A%84%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >\u793e\u4f1a\u7684\u30fb\u6559\u80b2\u7684\u30b5\u30dd\u30fc\u30c8<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/#%E7%B5%90%E8%AB%96%EF%BC%9A%E6%97%A9%E6%9C%9F%E8%A8%BA%E6%96%AD%E3%81%8C%E3%81%B2%E3%82%89%E3%81%8F%E6%9C%AA%E6%9D%A5\" >\u7d50\u8ad6\uff1a\u65e9\u671f\u8a3a\u65ad\u304c\u3072\u3089\u304f\u672a\u6765<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9A%E9%A1%94%E9%9D%A2%E3%81%A8%E5%9B%9B%E8%82%A2%E3%81%AE%E7%89%B9%E7%95%B0%E7%9A%84%E3%81%AA%E6%8B%98%E7%B8%AE\"><\/span><strong>1. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u9854\u9762\u3068\u56db\u80a2\u306e\u7279\u7570\u7684\u306a\u62d8\u7e2e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u62d8\u7e2e\u304c\u5168\u8eab\u306e\u9060\u4f4d\u90e8\uff08\u624b\u8db3\uff09\u3060\u3051\u3067\u306a\u304f\u3001\u9854\u9762\u306e\u7b4b\u8089\u306b\u3082\u53ca\u3093\u3067\u3044\u308b\u70b9\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A1%94%E9%9D%A2%E3%81%AE%E6%8B%98%E7%B8%AE%E3%81%A8%E5%BE%B4%E5%80%99\"><\/span><strong>\u9854\u9762\u306e\u62d8\u7e2e\u3068\u5fb4\u5019<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Whistling face\uff08\u53e3\u7b1b\u3092\u5439\u304f\u3088\u3046\u306a\u9854\uff09:<\/strong> \u53e3\u8f2a\u7b4b\u306e\u62d8\u7e2e\u306b\u3088\u308a\u3001\u53e3\u304c\u5c0f\u3055\u304f\u3059\u307c\u307e\u3063\u305f\u72b6\u614b\uff08\u5c0f\u53e3\u75c7\uff09\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>H-shaped chin dimple:<\/strong> \u9824\uff08\u3042\u3054\uff09\u306e\u7b4b\u8089\u306e\u7570\u5e38\u306a\u4ed8\u7740\u306b\u3088\u308a\u3001\u984e\u306bH\u5b57\u578b\u306e\u304f\u307c\u307f\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u4e0b\u5782\u3068\u773c\u77bc\u88c2\u72ed\u5c0f:<\/strong> \u76ee\u306e\u5468\u308a\u306e\u7b4b\u8089\u306e\u62d8\u7e2e\u306b\u3088\u308a\u3001\u76ee\u304c\u958b\u304d\u306b\u304f\u3044\u3001\u3042\u308b\u3044\u306f\u5c0f\u3055\u304f\u898b\u3048\u308b\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9B%9B%E8%82%A2%E3%81%AE%E6%8B%98%E7%B8%AE%E3%81%A8%E7%AD%8B%E7%B7%8A%E5%BC%B5\"><\/span><strong>\u56db\u80a2\u306e\u62d8\u7e2e\u3068\u7b4b\u7dca\u5f35<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5185\u53cd\u8db3\u304a\u3088\u3073\u624b\u6307\u306e\u5c48\u66f2\u62d8\u7e2e:<\/strong> \u51fa\u751f\u6642\u304b\u3089\u624b\u8db3\u306e\u95a2\u7bc0\u304c\u56fa\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u4ed6\u52d5\u7684\u306a\u904b\u52d5\u304c\u5236\u9650\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77db\u76fe\u3059\u308b\u300c\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u300d:<\/strong> \u62d8\u7e2e\uff08\u95a2\u7bc0\u304c\u56fa\u3044\uff09\u304c\u3042\u308b\u4e00\u65b9\u3067\u3001\u4f53\u5e79\u306a\u3069\u306f\u300c\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u30cf\u30a4\u30dd\u30c8\u30cb\u30a2\uff09\u300d\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u795e\u7d4c\u7b4b\u8089\u63a5\u5408\u90e8\u3084\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7570\u5e38\u3092\u793a\u5506\u3059\u308b\u91cd\u8981\u306a\u6240\u898b\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E5%88%86%E5%AD%90%E7%97%85%E6%85%8B\"><\/span><strong>2. \u539f\u56e0\u907a\u4f1d\u5b50\u3068\u5206\u5b50\u75c5\u614b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd1\u5e74\u306e\u30b2\u30ce\u30e0\u89e3\u6790\u306b\u3088\u308a\u3001\u3053\u306e\u8868\u73fe\u578b\u3092\u5f15\u304d\u8d77\u3053\u3059\u8907\u6570\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%A0%E4%BD%8D%E5%9E%8B%E9%96%A2%E7%AF%80%E6%8B%98%E7%B8%AE%E7%97%87%EF%BC%88Distal_Arthrogryposis_DA%EF%BC%89\"><\/span><strong>\u9060\u4f4d\u578b\u95a2\u7bc0\u62d8\u7e2e\u75c7\uff08Distal Arthrogryposis: DA\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e3b\u306b\u9aa8\u683c\u7b4b\u306e\u53ce\u7e2e\u88c5\u7f6e\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\uff08<strong>MYH3, TNNI2, TNNT3<\/strong>\u306a\u3069\uff09\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u80ce\u5150\u671f\u306b\u7b4b\u8089\u304c\u7570\u5e38\u53ce\u7e2e\u3057\u3001\u7d50\u679c\u3068\u3057\u3066\u95a2\u7bc0\u304c\u56fa\u5b9a\u3055\u308c\u307e\u3059\u3002\u4ee3\u8868\u7684\u306a\u3082\u306e\u306bFreeman-Sheldon\u75c7\u5019\u7fa4\uff08DA2A\uff09\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"UNC80%E3%81%8A%E3%82%88%E3%81%B3NALP12%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3\"><\/span><strong>UNC80\u304a\u3088\u3073NALP12\u95a2\u9023\u75be\u60a3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3088\u308a\u5e83\u7bc4\u306a\u767a\u9054\u9045\u6ede\u3068\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3092\u4f34\u3046\u5834\u5408\u3001\u7d30\u80de\u5185\u306e\u30a4\u30aa\u30f3\u30c1\u30e3\u30cd\u30eb\u8abf\u7bc0\u3084\u708e\u75c7\u30b7\u30b0\u30ca\u30eb\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>UNC80\u5909\u7570:<\/strong> \u91cd\u5ea6\u306e\u4f4e\u7dca\u5f35\u3001\u767a\u9054\u9045\u6ede\u3001\u305d\u3057\u3066\u7279\u7570\u7684\u306a\u9854\u8c8c\u3092\u4f34\u3046\u75c7\u5019\u7fa4\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u7d30\u80de\u306e\u8208\u596e\u6027\u7570\u5e38:<\/strong> \u795e\u7d4c\u4f1d\u9054\u306e\u4e0d\u5177\u5408\u304c\u3001\u7b4b\u5f62\u6210\u306e\u4e0d\u5168\u3068\u4e2d\u67a2\u6027\u306e\u767a\u9054\u9045\u6ede\u3092\u540c\u6642\u306b\u5f15\u304d\u8d77\u3053\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A8%BA%E6%96%AD%E3%81%B8%E3%81%AE%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81%EF%BC%9A%E7%94%BB%E5%83%8F%E3%83%BB%E7%94%9F%E7%90%86%E3%83%BB%E9%81%BA%E4%BC%9D\"><\/span><strong>3. \u8a3a\u65ad\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\uff1a\u753b\u50cf\u30fb\u751f\u7406\u30fb\u907a\u4f1d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306b\u306f\u3001\u81e8\u5e8a\u5fb4\u5019\u306e\u7cbe\u67fb\u306b\u52a0\u3048\u3066\u4ee5\u4e0b\u306e\u691c\u67fb\u304c\u7d44\u307f\u5408\u308f\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E7%94%9F%E7%90%86%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u795e\u7d4c\u751f\u7406\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u96fb\u56f3\uff08EMG\uff09:<\/strong> \u62d8\u7e2e\u304c\u7b4b\u539f\u6027\uff08\u7b4b\u8089\u81ea\u4f53\u306e\u554f\u984c\uff09\u304b\u3001\u795e\u7d4c\u539f\u6027\uff08\u795e\u7d4c\u306e\u6307\u4ee4\u306e\u554f\u984c\uff09\u304b\u3092\u5224\u5225\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI:<\/strong> \u8133\u306e\u69cb\u9020\u7570\u5e38\u3084\u9ac4\u9798\u5316\u306e\u9045\u5ef6\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u3001\u767a\u9054\u9045\u6ede\u306e\u539f\u56e0\u3092\u63a2\u7d22\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%86%E5%AD%90%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09:<\/strong> \u591a\u6570\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u7db2\u7f85\u3057\u305f\u300c\u95a2\u7bc0\u62d8\u7e2e\u30d1\u30cd\u30eb\u300d\u3084\u300c\u5168\u30a8\u30af\u30bd\u30f3\u89e3\u6790\uff08WES\uff09\u300d\u304c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u304a\u3044\u3066\u6700\u3082\u9ad8\u3044\u53ce\u7387\u3092\u8a87\u308a\u307e\u3059\u3002\u6b63\u78ba\u306a\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u3001\u5408\u4f75\u75c7\uff08\u60aa\u6027\u9ad8\u71b1\u75c7\u306e\u30ea\u30b9\u30af\u306a\u3069\uff09\u306e\u4e88\u6e2c\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"428\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/3542764_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-121583\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%8C%85%E6%8B%AC%E7%9A%84%E6%B2%BB%E7%99%82%E3%81%A8%E3%82%B1%E3%82%A2%EF%BC%9A%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%83%81%E3%83%BC%E3%83%A0%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>4. \u5305\u62ec\u7684\u6cbb\u7642\u3068\u30b1\u30a2\uff1a\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u62d8\u7e2e\u3068\u767a\u9054\u9045\u6ede\u3092\u4f75\u305b\u6301\u3064\u60a3\u8005\u306e\u30b1\u30a2\u306b\u306f\u3001\u5916\u79d1\u7684\u4ecb\u5165\u3068\u7d99\u7d9a\u7684\u306a\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306e\u878d\u5408\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%83%BB%E5%BD%A2%E6%88%90%E7%9A%84%E4%BB%8B%E5%85%A5\"><\/span><strong>\u6574\u5f62\u5916\u79d1\u7684\u30fb\u5f62\u6210\u7684\u4ecb\u5165<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6bb5\u968e\u7684\u306a\u624b\u8853:<\/strong> \u5185\u53cd\u8db3\u3084\u624b\u6307\u306e\u62d8\u7e2e\u306b\u5bfe\u3057\u3001\u8171\u5ef6\u9577\u8853\u3084\u95a2\u7bc0\u53d7\u52d5\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u53e3\u75c7\u3078\u306e\u5bfe\u5fdc:<\/strong> \u6442\u98df\u56f0\u96e3\u3084\u6b6f\u79d1\u6cbb\u7642\u306e\u59a8\u3052\u3068\u306a\u308b\u5834\u5408\u3001\u53e3\u5507\u306e\u5f62\u6210\u8853\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%88PTOTST%EF%BC%89\"><\/span><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08PT\/OT\/ST\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u304b\u3089\u306e\u30b9\u30c8\u30ec\u30c3\u30c1:<\/strong> \u95a2\u7bc0\u53ef\u52d5\u57df\u3092\u7dad\u6301\u3057\u3001\u4e8c\u6b21\u7684\u306a\u5909\u5f62\u3092\u9632\u6b62\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df\u56a5\u4e0b\u8a13\u7df4\uff08ST\uff09:<\/strong> \u9854\u9762\u306e\u62d8\u7e2e\u306b\u3088\u308b\u5480\u56bc\u30fb\u56a5\u4e0b\u56f0\u96e3\u306b\u5bfe\u3057\u3001\u9069\u5207\u306a\u98df\u5f62\u614b\u306e\u9078\u5b9a\u3084\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%BA%BB%E9%85%94%E7%AE%A1%E7%90%86%E3%81%AE%E6%B3%A8%E6%84%8F%E7%82%B9%EF%BC%88%E9%87%8D%E8%A6%81%EF%BC%89\"><\/span><strong>\u9ebb\u9154\u7ba1\u7406\u306e\u6ce8\u610f\u70b9\uff08\u91cd\u8981\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MYH3\u306a\u3069\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3092\u4f34\u3046\u5834\u5408\u3001\u5168\u8eab\u9ebb\u9154\u6642\u306b<strong>\u60aa\u6027\u9ad8\u71b1\u75c7<\/strong>\uff08\u6025\u6fc0\u306a\u4f53\u6e29\u4e0a\u6607\u3068\u7b4b\u786c\u76f4\u3092\u4f34\u3046\u81f4\u547d\u7684\u306a\u72b6\u614b\uff09\u3092\u8d77\u3053\u3059\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u8853\u524d\u306e\u6b63\u78ba\u306a\u8a55\u4fa1\u304c\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E4%BA%88%E5%BE%8C%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AE%E8%B3%AA%E3%81%AE%E5%90%91%E4%B8%8A\"><\/span><strong>5. \u4e88\u5f8c\u3068\u751f\u6d3b\u306e\u8cea\u306e\u5411\u4e0a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4e88\u5f8c\u306f\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u5909\u7570\u306e\u7a2e\u985e\u3068\u3001\u767a\u9054\u9045\u6ede\u306e\u7a0b\u5ea6\u306b\u5927\u304d\u304f\u4f9d\u5b58\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E5%B1%95%E6%9C%9B\"><\/span><strong>\u9577\u671f\u7684\u306a\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u56db\u80a2\u306e\u62d8\u7e2e\u306f\u9069\u5207\u306a\u624b\u8853\u3068\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3067\u5927\u5e45\u306a\u6539\u5584\u304c\u898b\u8fbc\u3081\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u9854\u9762\u306e\u62d8\u7e2e\u3084\u767a\u9054\u9045\u6ede\u306b\u3064\u3044\u3066\u306f\u3001\u9577\u671f\u306b\u308f\u305f\u308b\u500b\u5225\u652f\u63f4\u8a08\u753b\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A4%BE%E4%BC%9A%E7%9A%84%E3%83%BB%E6%95%99%E8%82%B2%E7%9A%84%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>\u793e\u4f1a\u7684\u30fb\u6559\u80b2\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u77e5\u7684\u767a\u9054\u306e\u6bb5\u968e\u306b\u5fdc\u3058\u305f\u7279\u5225\u652f\u63f4\u6559\u80b2\u306e\u63d0\u4f9b\u3084\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u652f\u63f4\u3059\u308b\u88dc\u52a9\u5668\u5177\u306e\u6d3b\u7528\u304c\u3001\u672c\u4eba\u306e\u81ea\u7acb\u3068\u5bb6\u65cf\u306eQOL\u5411\u4e0a\u306b\u5bc4\u4e0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96%EF%BC%9A%E6%97%A9%E6%9C%9F%E8%A8%BA%E6%96%AD%E3%81%8C%E3%81%B2%E3%82%89%E3%81%8F%E6%9C%AA%E6%9D%A5\"><\/span><strong>\u7d50\u8ad6\uff1a\u65e9\u671f\u8a3a\u65ad\u304c\u3072\u3089\u304f\u672a\u6765<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u300c\u56db\u80a2\u3068\u9854\u9762\u306e\u62d8\u7e2e\u3001\u4f4e\u7dca\u5f35\u3001\u767a\u9054\u9045\u6ede\u300d\u3068\u3044\u3046\u8907\u96d1\u306a\u30b5\u30a4\u30f3\u306f\u3001\u8eab\u4f53\u304b\u3089\u306e\u5207\u5b9f\u306a\u30e1\u30c3\u30bb\u30fc\u30b8\u3067\u3059\u3002\u4e00\u898b\u3059\u308b\u3068\u5225\u3005\u306e\u554f\u984c\u306b\u898b\u3048\u308b\u3053\u308c\u3089\u306e\u75c7\u72b6\u304c\u3001\u4e00\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3068\u3044\u3046\u5171\u901a\u306e\u6839\u6e90\u304b\u3089\u751f\u3058\u3066\u3044\u308b\u3053\u3068\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u306f\u3001\u9069\u5207\u306a\u533b\u7642\u7684\u30b1\u30a2\u306e\u7b2c\u4e00\u6b69\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u65b0\u306e\u907a\u4f1d\u5b50\u8a3a\u65ad\u306b\u57fa\u3065\u3044\u305f\u7cbe\u5bc6\u533b\u7642\uff08\u30d7\u30ec\u30b7\u30b8\u30e7\u30f3\u30fb\u30e1\u30c7\u30a3\u30b7\u30f3\uff09\u3092\u53d6\u308a\u5165\u308c\u308b\u3053\u3068\u3067\u3001\u5408\u4f75\u75c7\u306e\u30ea\u30b9\u30af\u3092\u56de\u907f\u3057\u3001\u305d\u306e\u5b50\u304c\u6301\u3064\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u305f\u3081\u306e\u300c\u6700\u77ed\u30eb\u30fc\u30c8\u300d\u3092\u898b\u51fa\u3059\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":121709,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122865","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122865","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\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=122865"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122865\/revisions"}],"predecessor-version":[{"id":126224,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122865\/revisions\/126224"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121709"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122865"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122865"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122865"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}