{"id":122858,"date":"2026-01-15T12:13:44","date_gmt":"2026-01-15T03:13:44","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122858"},"modified":"2026-01-15T12:13:45","modified_gmt":"2026-01-15T03:13:45","slug":"osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide\/","title":{"rendered":"\u9aa8\u7570\u5f62\u6210\u4e0d\u5168\u75c7\u3068\u30a8\u30fc\u30e9\u30b9\u30c0\u30f3\u30ed\u30b9\u75c7\u5019\u7fa4 1"},"content":{"rendered":"\n<p>\u533b\u7642\u73fe\u5834\u306b\u304a\u3044\u3066\u3001\u983b\u56de\u306a\u9aa8\u6298\u3092\u7e70\u308a\u8fd4\u3059\u60a3\u8005\u3084\u3001\u7570\u5e38\u306b\u95a2\u7bc0\u304c\u67d4\u3089\u304b\u3044\u60a3\u8005\u306b\u51fa\u4f1a\u3063\u305f\u969b\u3001\u9451\u5225\u75be\u60a3\u306e\u7b46\u982d\u306b\u6319\u304c\u308b\u306e\u304c\u300c\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\uff08OI\uff09\u300d\u3068\u300c\u30a8\u30fc\u30e9\u30b9\u30fb\u30c0\u30f3\u30ed\u30b9\u75c7\u5019\u7fa4\uff08EDS\uff09\u300d\u3067\u3059\u3002\u3053\u308c\u3089\u306f\u3001\u4eba\u4f53\u3092\u69cb\u6210\u3059\u308b\u4e3b\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3042\u308b\u300c\u30b3\u30e9\u30fc\u30b2\u30f3\u300d\u306e\u8a2d\u8a08\u56f3\uff08\u907a\u4f1d\u5b50\uff09\u3084\u3001\u305d\u306e\u7ffb\u8a33\u5f8c\u4fee\u98fe\u30d7\u30ed\u30bb\u30b9\u306b\u7570\u5e38\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u306f\u3001\u3053\u308c\u30892\u3064\u306e\u75be\u60a3\u306e\u57fa\u672c\u7684\u306a\u75c5\u614b\u3092\u6574\u7406\u3057\u3001\u7279\u306b\u4e21\u8005\u306e\u7279\u5fb4\u304c\u91cd\u306a\u308a\u5408\u3046\u81e8\u5e8a\u7684\u8ab2\u984c\u306b\u3064\u3044\u3066\u5c02\u9580\u7684\u306a\u8996\u70b9\u304b\u3089\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\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\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide\/#1_%E5%88%86%E5%AD%90%E7%97%85%E6%85%8B%E3%81%AE%E5%9F%BA%E7%A4%8E%EF%BC%9A1%E5%9E%8B%E3%82%B3%E3%83%A9%E3%83%BC%E3%82%B2%E3%83%B3%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >1. \u5206\u5b50\u75c5\u614b\u306e\u57fa\u790e\uff1a1\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u91cd\u8981\u6027<\/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\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide\/#%E9%AA%A8%E5%BD%A2%E6%88%90%E4%B8%8D%E5%85%A8%E7%97%87%EF%BC%88OI%EF%BC%89%E3%81%A8%E3%82%B3%E3%83%A9%E3%83%BC%E3%82%B2%E3%83%B3\" >\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\uff08OI\uff09\u3068\u30b3\u30e9\u30fc\u30b2\u30f3<\/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\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide\/#%E3%82%A8%E3%83%BC%E3%83%A9%E3%82%B9%E3%83%BB%E3%83%80%E3%83%B3%E3%83%AD%E3%82%B9%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88EDS%EF%BC%89%E3%81%A8%E3%82%B3%E3%83%A9%E3%83%BC%E3%82%B2%E3%83%B3\" >\u30a8\u30fc\u30e9\u30b9\u30fb\u30c0\u30f3\u30ed\u30b9\u75c7\u5019\u7fa4\uff08EDS\uff09\u3068\u30b3\u30e9\u30fc\u30b2\u30f3<\/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\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide\/#2_%E8%87%A8%E5%BA%8A%E7%9A%84%E5%BE%B4%E5%80%99%E3%81%AE%E6%AF%94%E8%BC%83%E3%81%A8%E3%82%AA%E3%83%BC%E3%83%90%E3%83%BC%E3%83%A9%E3%83%83%E3%83%97\" >2. \u81e8\u5e8a\u7684\u5fb4\u5019\u306e\u6bd4\u8f03\u3068\u30aa\u30fc\u30d0\u30fc\u30e9\u30c3\u30d7<\/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\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide\/#%E5%85%B1%E9%80%9A%E3%81%99%E3%82%8B%E7%97%87%E7%8A%B6\" >\u5171\u901a\u3059\u308b\u75c7\u72b6<\/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\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide\/#%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E7%9B%B8%E9%81%95%E7%82%B9\" >\u7279\u5fb4\u7684\u306a\u76f8\u9055\u70b9<\/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\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide\/#3_%E3%80%8C%E9%AA%A8%E5%BD%A2%E6%88%90%E4%B8%8D%E5%85%A8%E7%97%87%E3%82%92%E4%BC%B4%E3%81%86EDS%E3%80%8D%EF%BC%9A%E9%87%8D%E3%81%AA%E3%82%8B%E7%97%85%E6%85%8B\" >3. \u300c\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\u3092\u4f34\u3046EDS\u300d\uff1a\u91cd\u306a\u308b\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-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide\/#COL1A1A2%E5%A4%89%E7%95%B0%E3%81%AB%E3%82%88%E3%82%8BEDS\" >COL1A1\/A2\u5909\u7570\u306b\u3088\u308bEDS<\/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\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide\/#%E8%84%8A%E6%9F%B1%E5%81%B4%E5%BC%AF%E5%9E%8BEDS_kEDS\" >\u810a\u67f1\u5074\u5f2f\u578bEDS (kEDS)<\/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\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide\/#4_%E6%9C%80%E6%96%B0%E3%81%AE%E8%A8%BA%E6%96%AD%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\" >4. \u6700\u65b0\u306e\u8a3a\u65ad\u30a2\u30d7\u30ed\u30fc\u30c1<\/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\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide\/#%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%EF%BC%9A%E3%83%99%E3%82%A4%E3%83%88%E3%83%B3%E3%83%BB%E3%82%B9%E3%82%B3%E3%82%A2_Beighton_Score\" >\u81e8\u5e8a\u8a3a\u65ad\uff1a\u30d9\u30a4\u30c8\u30f3\u30fb\u30b9\u30b3\u30a2 (Beighton Score)<\/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\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide\/#%E5%88%86%E5%AD%90%E8%A8%BA%E6%96%AD%EF%BC%9A%E3%83%9E%E3%83%AB%E3%83%81%E9%81%BA%E4%BC%9D%E5%AD%90%E3%83%91%E3%83%8D%E3%83%AB\" >\u5206\u5b50\u8a3a\u65ad\uff1a\u30de\u30eb\u30c1\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide\/#5_%E5%8C%85%E6%8B%AC%E7%9A%84%E6%B2%BB%E7%99%82%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AE%E8%B3%AA_QOL\" >5. \u5305\u62ec\u7684\u6cbb\u7642\u3068\u751f\u6d3b\u306e\u8cea (QOL)<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide\/#%E8%96%AC%E7%89%A9%E7%99%82%E6%B3%95%EF%BC%88%E4%B8%BB%E3%81%ABOI%EF%BC%89\" >\u85ac\u7269\u7642\u6cd5\uff08\u4e3b\u306bOI\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-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%E3%81%A8%E5%A4%96%E7%A7%91%E7%9A%84%E5%AF%BE%E5%BF%9C%EF%BC%88%E4%B8%BB%E3%81%ABEDS%EF%BC%89\" >\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u5916\u79d1\u7684\u5bfe\u5fdc\uff08\u4e3b\u306bEDS\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/osteogenesis-imperfecta-vs-ehlers-danlos-syndrome-guide\/#%E7%B5%90%E8%AB%96%EF%BC%9A%E7%B5%90%E5%90%88%E7%B5%84%E7%B9%94%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%97%E3%81%A6%E3%81%AE%E3%83%88%E3%83%BC%E3%82%BF%E3%83%AB%E3%82%B1%E3%82%A2\" >\u7d50\u8ad6\uff1a\u7d50\u5408\u7d44\u7e54\u75be\u60a3\u3068\u3057\u3066\u306e\u30c8\u30fc\u30bf\u30eb\u30b1\u30a2<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%88%86%E5%AD%90%E7%97%85%E6%85%8B%E3%81%AE%E5%9F%BA%E7%A4%8E%EF%BC%9A1%E5%9E%8B%E3%82%B3%E3%83%A9%E3%83%BC%E3%82%B2%E3%83%B3%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>1. \u5206\u5b50\u75c5\u614b\u306e\u57fa\u790e\uff1a1\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>OI\u3068\u591a\u304f\u306eEDS\uff08\u7279\u306b\u53e4\u5178\u578b\u3084\u8840\u7ba1\u578b\uff09\u306f\u3001\u7d30\u80de\u5916\u30de\u30c8\u30ea\u30c3\u30af\u30b9\u306e\u4e3b\u6210\u5206\u3067\u3042\u308b\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u7570\u5e38\u306b\u8d77\u56e0\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%AA%A8%E5%BD%A2%E6%88%90%E4%B8%8D%E5%85%A8%E7%97%87%EF%BC%88OI%EF%BC%89%E3%81%A8%E3%82%B3%E3%83%A9%E3%83%BC%E3%82%B2%E3%83%B3\"><\/span><strong>\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\uff08OI\uff09\u3068\u30b3\u30e9\u30fc\u30b2\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>OI\u306e\u7d0485\u301c90%\u306f\u30011\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u3092\u30b3\u30fc\u30c9\u3059\u308b<strong>COL1A1<\/strong>\u307e\u305f\u306f<strong>COL1A2<\/strong>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cf\u7684\u306a\u7570\u5e38:<\/strong> \u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u8cea\u306f\u826f\u3044\u304c\u91cf\u304c\u8db3\u308a\u306a\u3044\uff08\u8efd\u75c7\u578b\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8cea\u7684\u306a\u7570\u5e38:<\/strong> \u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u69cb\u9020\u81ea\u4f53\u304c\u6b6a\u3093\u3067\u3044\u308b\uff08\u91cd\u75c7\u578b\uff09\u3002\u3053\u308c\u306b\u3088\u308a\u9aa8\u306e\u77f3\u7070\u5316\u304c\u4e0d\u5341\u5206\u3068\u306a\u308a\u3001\u308f\u305a\u304b\u306a\u885d\u6483\u3067\u9aa8\u6298\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%A8%E3%83%BC%E3%83%A9%E3%82%B9%E3%83%BB%E3%83%80%E3%83%B3%E3%83%AD%E3%82%B9%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88EDS%EF%BC%89%E3%81%A8%E3%82%B3%E3%83%A9%E3%83%BC%E3%82%B2%E3%83%B3\"><\/span><strong>\u30a8\u30fc\u30e9\u30b9\u30fb\u30c0\u30f3\u30ed\u30b9\u75c7\u5019\u7fa4\uff08EDS\uff09\u3068\u30b3\u30e9\u30fc\u30b2\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>EDS\u306f\u3001\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u578b\uff081\u578b\u30013\u578b\u30015\u578b\u306a\u3069\uff09\u3084\u3001\u30b3\u30e9\u30fc\u30b2\u30f3\u3092\u675f\u306d\u308b\u9175\u7d20\uff08PLOD1\u306a\u3069\uff09\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u30d8\u30c6\u30ed\u306a\u75be\u60a3\u7fa4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u76ae\u819a\u30fb\u95a2\u7bc0\u3078\u306e\u5f71\u97ff:<\/strong> \u30b3\u30e9\u30fc\u30b2\u30f3\u7dda\u7dad\u306e\u5f37\u5ea6\u304c\u4e0d\u8db3\u3059\u308b\u305f\u3081\u3001\u76ae\u819a\u306f\u7570\u5e38\u306b\u4f38\u3073\u3001\u95a2\u7bc0\u306f\u53ef\u52d5\u57df\u3092\u8d85\u3048\u3066\u8131\u81fc\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%87%A8%E5%BA%8A%E7%9A%84%E5%BE%B4%E5%80%99%E3%81%AE%E6%AF%94%E8%BC%83%E3%81%A8%E3%82%AA%E3%83%BC%E3%83%90%E3%83%BC%E3%83%A9%E3%83%83%E3%83%97\"><\/span><strong>2. \u81e8\u5e8a\u7684\u5fb4\u5019\u306e\u6bd4\u8f03\u3068\u30aa\u30fc\u30d0\u30fc\u30e9\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>OI\u3068EDS\u306f\u7570\u306a\u308b\u75be\u60a3\u3067\u3059\u304c\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u306f\u3057\u3070\u3057\u3070\u300c\u3069\u3061\u3089\u306e\u8a3a\u65ad\u304c\u9069\u5207\u304b\u300d\u3068\u3044\u3046\u8b70\u8ad6\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%B1%E9%80%9A%E3%81%99%E3%82%8B%E7%97%87%E7%8A%B6\"><\/span><strong>\u5171\u901a\u3059\u308b\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9752\u8272\u5f37\u819c:<\/strong> \u773c\u7403\u306e\u767d\u3044\u90e8\u5206\u304c\u9752\u304f\u898b\u3048\u308b\u73fe\u8c61\u3002\u30b3\u30e9\u30fc\u30b2\u30f3\u304c\u8584\u3044\u305f\u3081\u3001\u4e0b\u306e\u8108\u7d61\u819c\u304c\u900f\u3051\u3066\u898b\u3048\u308b\u3053\u3068\u3067\u751f\u3058\u307e\u3059\u3002\u4e21\u75be\u60a3\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u95a2\u7bc0\u904e\u53ef\u52d5:<\/strong> \u95a2\u7bc0\u304c\u901a\u5e38\u4ee5\u4e0a\u306b\u67d4\u3089\u304b\u3044\u3053\u3068\u3002EDS\u306e\u4e3b\u75c7\u72b6\u3067\u3059\u304c\u3001OI\u306e\u60a3\u8005\u3067\u3082\u591a\u304f\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8c61\u7259\u8cea\u5f62\u6210\u4e0d\u5168:<\/strong> \u6b6f\u304c\u8106\u304f\u3001\u5909\u8272\u3059\u308b\u75c7\u72b6\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E7%9B%B8%E9%81%95%E7%82%B9\"><\/span><strong>\u7279\u5fb4\u7684\u306a\u76f8\u9055\u70b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td><strong>\u7279\u5fb4<\/strong><\/td><td><strong>\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7 (OI)<\/strong><\/td><td><strong>\u30a8\u30fc\u30e9\u30b9\u30fb\u30c0\u30f3\u30ed\u30b9\u75c7\u5019\u7fa4 (EDS)<\/strong><\/td><\/tr><tr><td><strong>\u4e3b\u75c7\u72b6<\/strong><\/td><td>\u9aa8\u306e\u8106\u5f31\u6027\u3001\u983b\u56de\u306a\u9aa8\u6298\u3001\u9aa8\u5909\u5f62<\/td><td>\u76ae\u819a\u306e\u904e\u4f38\u5c55\u6027\u3001\u95a2\u7bc0\u8131\u81fc\u3001\u7d44\u7e54\u306e\u8106\u5f31\u6027<\/td><\/tr><tr><td><strong>\u9aa8\u5bc6\u5ea6<\/strong><\/td><td>\u8457\u3057\u304f\u4f4e\u4e0b\u3059\u308b\u3053\u3068\u304c\u591a\u3044<\/td><td>\u901a\u5e38\u306f\u6b63\u5e38\uff08\u4e00\u90e8\u306e\u578b\u3092\u9664\u304d\uff09<\/td><\/tr><tr><td><strong>\u8840\u7ba1\u30ea\u30b9\u30af<\/strong><\/td><td>\u6bd4\u8f03\u7684\u4f4e\u3044\uff08\u578b\u306b\u3088\u308b\uff09<\/td><td>\u8840\u7ba1\u578b(vEDS)\u3067\u306f\u52d5\u8108\u7834\u88c2\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E3%80%8C%E9%AA%A8%E5%BD%A2%E6%88%90%E4%B8%8D%E5%85%A8%E7%97%87%E3%82%92%E4%BC%B4%E3%81%86EDS%E3%80%8D%EF%BC%9A%E9%87%8D%E3%81%AA%E3%82%8B%E7%97%85%E6%85%8B\"><\/span><strong>3. \u300c\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\u3092\u4f34\u3046EDS\u300d\uff1a\u91cd\u306a\u308b\u75c5\u614b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd1\u5e74\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u3063\u3066\u3001OI\u3068EDS\u306e\u4e21\u65b9\u306e\u7279\u5fb4\u3092\u4f75\u305b\u6301\u3064\u75c5\u614b\u304c\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"COL1A1A2%E5%A4%89%E7%95%B0%E3%81%AB%E3%82%88%E3%82%8BEDS\"><\/span><strong>COL1A1\/A2\u5909\u7570\u306b\u3088\u308bEDS<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7279\u5b9a\u306e\u30b3\u30e9\u30fc\u30b2\u30f3\u5909\u7570\u3067\u306f\u3001\u9aa8\u306e\u8106\u5f31\u6027\uff08OI\u7684\u7279\u5fb4\uff09\u3068\u76ae\u819a\u306e\u9ad8\u5ea6\u306a\u4f38\u5c55\u6027\u30fb\u95a2\u7bc0\u8131\u81fc\uff08EDS\u7684\u7279\u5fb4\uff09\u304c\u540c\u6642\u306b\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u300c\u30a2\u30df\u30ce\u672b\u7aef\u30d7\u30ed\u30da\u30d7\u30c1\u30c9\u5207\u65ad\u90e8\u4f4d\u300d\u306e\u5909\u7570\u306a\u3069\u3067\u898b\u3089\u308c\u3001\u81e8\u5e8a\u7684\u306b\u306f\u975e\u5e38\u306b\u8907\u96d1\u306a\u7ba1\u7406\u3092\u8981\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%84%8A%E6%9F%B1%E5%81%B4%E5%BC%AF%E5%9E%8BEDS_kEDS\"><\/span><strong>\u810a\u67f1\u5074\u5f2f\u578bEDS (kEDS)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>PLOD1\u907a\u4f1d\u5b50\uff08\u30b3\u30e9\u30fc\u30b2\u30f3\u4fee\u98fe\u9175\u7d20\uff09\u306e\u6b20\u640d\u306b\u3088\u308a\u3001\u91cd\u5ea6\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u810a\u67f1\u5074\u5f2f\u3001\u305d\u3057\u3066\u4e2d\u7a0b\u5ea6\u306e\u9aa8\u8106\u5f31\u6027\u3092\u5448\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u300cEDS\u300d\u306e\u540d\u3092\u51a0\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u9aa8\u306e\u8106\u5f31\u6027\u3068\u3044\u3046\u70b9\u3067\u306fOI\u3068\u306e\u9451\u5225\u304c\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/32007644_s-2.webp\" alt=\"\u533b\u8005\" class=\"wp-image-122305\"\/><\/figure><\/div>\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%9C%80%E6%96%B0%E3%81%AE%E8%A8%BA%E6%96%AD%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\"><\/span><strong>4. \u6700\u65b0\u306e\u8a3a\u65ad\u30a2\u30d7\u30ed\u30fc\u30c1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6b63\u78ba\u306a\u8a3a\u65ad\u306f\u3001\u9069\u5207\u306a\u6cbb\u7642\u4ecb\u5165\u3068\u30ea\u30b9\u30af\u7ba1\u7406\u306e\u524d\u63d0\u6761\u4ef6\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%EF%BC%9A%E3%83%99%E3%82%A4%E3%83%88%E3%83%B3%E3%83%BB%E3%82%B9%E3%82%B3%E3%82%A2_Beighton_Score\"><\/span><strong>\u81e8\u5e8a\u8a3a\u65ad\uff1a\u30d9\u30a4\u30c8\u30f3\u30fb\u30b9\u30b3\u30a2 (Beighton Score)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u95a2\u7bc0\u306e\u67d4\u3089\u304b\u3055\u3092\u8a55\u4fa1\u3059\u308b\u56fd\u969b\u7684\u306a\u6307\u6a19\u3067\u3059\u3002\u5c0f\u6307\u304c90\u5ea6\u4ee5\u4e0a\u66f2\u304c\u308b\u304b\u3001\u89aa\u6307\u304c\u524d\u8155\u306b\u3064\u304f\u304b\u306a\u3069\u3092\u70b9\u6570\u5316\u3057\u3001EDS\u306e\u53ef\u80fd\u6027\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%86%E5%AD%90%E8%A8%BA%E6%96%AD%EF%BC%9A%E3%83%9E%E3%83%AB%E3%83%81%E9%81%BA%E4%BC%9D%E5%AD%90%E3%83%91%E3%83%8D%E3%83%AB\"><\/span><strong>\u5206\u5b50\u8a3a\u65ad\uff1a\u30de\u30eb\u30c1\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u306f\u3001OI\u3068EDS\u306e\u4e21\u65b9\u306e\u539f\u56e0\u907a\u4f1d\u5b50\uff08COL1A1, COL1A2, COL5A1, COL5A2, TNXB, PLOD1\u306a\u3069\uff09\u3092\u4e00\u5ea6\u306b\u8abf\u3079\u308b<strong>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u30d1\u30cd\u30eb<\/strong>\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u75c7\u72b6\u304b\u3089\u306f\u5224\u5225\u3057\u306b\u304f\u3044\u30b5\u30d6\u30bf\u30a4\u30d7\u306e\u7279\u5b9a\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E5%8C%85%E6%8B%AC%E7%9A%84%E6%B2%BB%E7%99%82%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AE%E8%B3%AA_QOL\"><\/span><strong>5. \u5305\u62ec\u7684\u6cbb\u7642\u3068\u751f\u6d3b\u306e\u8cea (QOL)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3069\u3061\u3089\u306e\u75be\u60a3\u3067\u3042\u3063\u3066\u3082\u3001\u6cbb\u7642\u306e\u76ee\u7684\u306f\u300c\u9aa8\u6298\u306e\u4e88\u9632\u300d\u3068\u300c\u6a5f\u80fd\u306e\u7dad\u6301\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%96%AC%E7%89%A9%E7%99%82%E6%B3%95%EF%BC%88%E4%B8%BB%E3%81%ABOI%EF%BC%89\"><\/span><strong>\u85ac\u7269\u7642\u6cd5\uff08\u4e3b\u306bOI\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d3\u30b9\u30db\u30b9\u30db\u30cd\u30fc\u30c8\u88fd\u5264:<\/strong> \u9aa8\u5438\u53ce\u3092\u6291\u5236\u3057\u3001\u9aa8\u5bc6\u5ea6\u3092\u9ad8\u3081\u308b\u3053\u3068\u3067\u9aa8\u6298\u7387\u3092\u4f4e\u4e0b\u3055\u305b\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30c7\u30ce\u30b9\u30de\u30d6:<\/strong> \u8fd1\u5e74\u3001\u5c0f\u5150OI\u306b\u5bfe\u3057\u3066\u3082\u691c\u8a0e\u304c\u9032\u3093\u3067\u3044\u308b\u65b0\u3057\u3044\u9078\u629e\u80a2\u3067\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%E3%81%A8%E5%A4%96%E7%A7%91%E7%9A%84%E5%AF%BE%E5%BF%9C%EF%BC%88%E4%B8%BB%E3%81%ABEDS%EF%BC%89\"><\/span><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u5916\u79d1\u7684\u5bfe\u5fdc\uff08\u4e3b\u306bEDS\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u529b\u5f37\u5316:<\/strong> \u95a2\u7bc0\u306e\u4e0d\u5b89\u5b9a\u6027\u3092\u88dc\u3046\u305f\u3081\u3001\u7b49\u5c3a\u6027\u904b\u52d5\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u7b4b\u529b\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u4fb5\u8972\u624b\u8853:<\/strong> 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