{"id":122554,"date":"2026-01-14T10:56:46","date_gmt":"2026-01-14T01:56:46","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122554"},"modified":"2026-03-27T16:27:36","modified_gmt":"2026-03-27T07:27:36","slug":"bohring-opitz-syndrome-bos-asxl1-symptoms-management","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/","title":{"rendered":"Bohring-Opitz Syndrome"},"content":{"rendered":"\n<p>Bohring-Opitz\u75c7\u5019\u7fa4\uff08BOS\uff09\u306f\u30011999\u5e74\u306bBohring\u3089\u306b\u3088\u3063\u3066\u5831\u544a\u3055\u308c\u305f\u3001\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u91cd\u7be4\u306a\u767a\u9054\u7570\u5e38\u3092\u4f34\u3046\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002\u4ee5\u524d\u306f\u300cOberklaid-Danks\u75c7\u5019\u7fa4\u300d\u3068\u3082\u547c\u3070\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u73fe\u5728\u3067\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308bASXL1\u306e\u540c\u5b9a\u306b\u3088\u308a\u3001\u72ec\u7acb\u3057\u305f\u907a\u4f1d\u6027\u75be\u60a3\u3068\u3057\u3066\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>BOS\u306f\u3001\u7279\u6709\u306e\u300cBOS\u59ff\u52e2\uff08BOS 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#1_%E7%97%85%E5%9B%A0%EF%BC%9AASXL1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%83%92%E3%82%B9%E3%83%88%E3%83%B3%E4%BF%AE%E9%A3%BE%E3%81%AE%E7%A0%B4%E7%B6%BB\" >1. \u75c5\u56e0\uff1aASXL1\u907a\u4f1d\u5b50\u3068\u30d2\u30b9\u30c8\u30f3\u4fee\u98fe\u306e\u7834\u7dbb<\/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\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#%E3%82%A8%E3%83%94%E3%82%B8%E3%82%A7%E3%83%8D%E3%83%86%E3%82%A3%E3%82%AF%E3%82%B9%E3%81%AE%E5%8F%B8%E4%BB%A4%E5%A1%94\" >\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\u306e\u53f8\u4ee4\u5854<\/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\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#%E5%A4%89%E7%95%B0%E3%81%AE%E6%80%A7%E8%B3%AA\" >\u5909\u7570\u306e\u6027\u8cea<\/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\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#2_%E8%87%A8%E5%BA%8A%E7%9A%84%E5%BE%B4%E5%80%99%EF%BC%9ABOS%E3%82%92%E5%AE%9A%E7%BE%A9%E3%81%99%E3%82%8B%E7%89%B9%E5%BE%B4%E7%9A%84%E6%89%80%E8%A6%8B\" >2. \u81e8\u5e8a\u7684\u5fb4\u5019\uff1aBOS\u3092\u5b9a\u7fa9\u3059\u308b\u7279\u5fb4\u7684\u6240\u898b<\/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\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#%E2%91%A0_BOS%E5%A7%BF%E5%8B%A2%EF%BC%88BOS_Posture%EF%BC%89\" >\u2460 BOS\u59ff\u52e2\uff08BOS Posture\uff09<\/a><\/li><li 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class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#4_%E9%9B%86%E5%AD%A6%E7%9A%84%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88%EF%BC%9AQOL%E5%90%91%E4%B8%8A%E3%81%AE%E3%81%9F%E3%82%81%E3%81%AE%E4%BB%8B%E5%85%A5\" >4. \u96c6\u5b66\u7684\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\uff1aQOL\u5411\u4e0a\u306e\u305f\u3081\u306e\u4ecb\u5165<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#%E5%91%BC%E5%90%B8%E3%83%BB%E6%91%82%E9%A3%9F%E7%AE%A1%E7%90%86\" >\u547c\u5438\u30fb\u6442\u98df\u7ba1\u7406<\/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\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E4%BB%8B%E5%85%A5\" >\u795e\u7d4c\u5b66\u7684\u4ecb\u5165<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#%E3%83%A9%E3%82%A4%E3%83%95%E3%82%B9%E3%83%86%E3%83%BC%E3%82%B8%E3%81%AB%E5%90%88%E3%82%8F%E3%81%9B%E3%81%9F%E6%94%AF%E6%8F%B4\" >\u30e9\u30a4\u30d5\u30b9\u30c6\u30fc\u30b8\u306b\u5408\u308f\u305b\u305f\u652f\u63f4<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#5_%E4%BA%88%E5%BE%8C%E3%81%A8%E5%B1%95%E6%9C%9B\" >5. \u4e88\u5f8c\u3068\u5c55\u671b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#%E5%B0%86%E6%9D%A5%E7%9A%84%E3%81%AA%E6%B2%BB%E7%99%82%E3%81%B8%E3%81%AE%E6%9C%9F%E5%BE%85\" >\u5c06\u6765\u7684\u306a\u6cbb\u7642\u3078\u306e\u671f\u5f85<\/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\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#%E7%B5%90%E8%AB%96\" >\u7d50\u8ad6<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%97%85%E5%9B%A0%EF%BC%9AASXL1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%83%92%E3%82%B9%E3%83%88%E3%83%B3%E4%BF%AE%E9%A3%BE%E3%81%AE%E7%A0%B4%E7%B6%BB\"><\/span><strong>1. \u75c5\u56e0\uff1aASXL1\u907a\u4f1d\u5b50\u3068\u30d2\u30b9\u30c8\u30f3\u4fee\u98fe\u306e\u7834\u7dbb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BOS\u306e\u4e3b\u306a\u539f\u56e0\u306f\u3001\u7b2c20\u67d3\u8272\u4f53\uff0820q11.21\uff09\u306b\u4f4d\u7f6e\u3059\u308b<strong>ASXL1\u907a\u4f1d\u5b50<\/strong>\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u578b\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%A8%E3%83%94%E3%82%B8%E3%82%A7%E3%83%8D%E3%83%86%E3%82%A3%E3%82%AF%E3%82%B9%E3%81%AE%E5%8F%B8%E4%BB%A4%E5%A1%94\"><\/span><strong>\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\u306e\u53f8\u4ee4\u5854<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ASXL1\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u30af\u30ed\u30de\u30c1\u30f3\u4fee\u98fe\u8907\u5408\u4f53\u3067\u3042\u308bPRC1\u304a\u3088\u3073PRC2\u3068\u76f8\u4e92\u4f5c\u7528\u3057\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u300c\u30aa\u30f3\u30fb\u30aa\u30d5\u300d\u3092\u5236\u5fa1\u3059\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u80da\u767a\u751f\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059<strong>Hox\u907a\u4f1d\u5b50\u7fa4<\/strong>\u306e\u5236\u5fa1\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%89%E7%95%B0%E3%81%AE%E6%80%A7%E8%B3%AA\"><\/span><strong>\u5909\u7570\u306e\u6027\u8cea<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>BOS\u306b\u304a\u3051\u308bASXL1\u306e\u5909\u7570\u306f\u3001\u591a\u304f\u304cde novo\uff08\u7a81\u7136\u5909\u7570\uff09\u306e\u5207\u65ad\u578b\u5909\u7570\uff08\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\u3084\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\uff09\u3067\u3059\u3002\u3053\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u6b63\u5e38\u306a\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u30fb\u30d7\u30ed\u30b0\u30e9\u30e0\u304c\u7834\u7dbb\u3057\u3001\u8133\u3001\u9854\u9762\u3001\u9aa8\u683c\u3001\u5185\u81d3\u306e\u5f62\u6210\u30d7\u30ed\u30bb\u30b9\u306b\u9023\u9396\u7684\u306a\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u306a\u304a\u3001ASXL1\u306e\u4f53\u7d30\u80de\u5909\u7570\u306f\u9aa8\u9ac4\u7570\u5f62\u6210\u75c7\u5019\u7fa4\uff08MDS\uff09\u306a\u3069\u306e\u8840\u6db2\u816b\u760d\u3067\u3082\u898b\u3089\u308c\u307e\u3059\u304c\u3001BOS\u306f\u751f\u6b96\u7d30\u80de\u7cfb\u5217\u306e\u5909\u7570\u306b\u3088\u308b\u5168\u8eab\u6027\u306e\u767a\u751f\u7570\u5e38\u3067\u3059\u3002<\/p>\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%EF%BC%9ABOS%E3%82%92%E5%AE%9A%E7%BE%A9%E3%81%99%E3%82%8B%E7%89%B9%E5%BE%B4%E7%9A%84%E6%89%80%E8%A6%8B\"><\/span><strong>2. \u81e8\u5e8a\u7684\u5fb4\u5019\uff1aBOS\u3092\u5b9a\u7fa9\u3059\u308b\u7279\u5fb4\u7684\u6240\u898b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BOS\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u6700\u3082\u91cd\u8981\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u306f\u3001\u8eab\u4f53\u7684\u30fb\u795e\u7d4c\u5b66\u7684\u306a\u72ec\u7279\u306e\u30b5\u30a4\u30f3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_BOS%E5%A7%BF%E5%8B%A2%EF%BC%88BOS_Posture%EF%BC%89\"><\/span><strong>\u2460 BOS\u59ff\u52e2\uff08BOS Posture\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u3082\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u6240\u898b\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0a\u80a2\u306e\u80a2\u4f4d\uff1a<\/strong> \u624b\u9996\u3092\u5f37\u304f\u5c48\u66f2\u3055\u305b\u3001\u8098\u3092\u66f2\u3052\u3001\u8155\u3092\u5185\u5074\u306b\u5dfb\u304d\u8fbc\u3080\u3088\u3046\u306a\u72ec\u7279\u306e\u59ff\u52e2\u3092\u3068\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0\uff1a<\/strong> \u91cd\u5ea6\u306e\u7b4b\u7dca\u5f35\u7570\u5e38\uff08\u30b8\u30b9\u30c8\u30cb\u30a2\u69d8\uff09\u306b\u57fa\u3065\u304f\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u4e73\u5150\u671f\u306b\u7279\u306b\u9855\u8457\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88Facial_Features%EF%BC%89\"><\/span><strong>\u2461 \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Features\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u706b\u7114\u72b6\u6bcd\u6591\uff08Nevus Flammeus\uff09\uff1a<\/strong> \u7709\u9593\u3084\u984d\u306b\u300c\u30dd\u30fc\u30c8\u30ef\u30a4\u30f3\u6bcd\u6591\u300d\u306e\u3088\u3046\u306a\u8d64\u3044\u3042\u3056\u304c\u898b\u3089\u308c\u308b\u306e\u304c\u975e\u5e38\u306b\u5178\u578b\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u7403\u7a81\u51fa\uff1a<\/strong> \u773c\u7aa9\u304c\u6d45\u304f\u3001\u76ee\u304c\u7a81\u304d\u51fa\u3057\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u84cb\u88c2\u30fb\u9ad8\u53e3\u84cb\uff1a<\/strong> \u6442\u98df\u3084\u8a00\u8a9e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u591a\u6bdb\uff08Hirsutism\uff09\uff1a<\/strong> \u984d\u3084\u80cc\u4e2d\u306e\u6bdb\u304c\u6fc3\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E9%87%8D%E7%AF%A4%E3%81%AA%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E3%81%8A%E3%82%88%E3%81%B3%E6%91%82%E9%A3%9F%E3%81%AE%E5%95%8F%E9%A1%8C\"><\/span><strong>\u2462 \u91cd\u7be4\u306a\u795e\u7d4c\u767a\u9054\u304a\u3088\u3073\u6442\u98df\u306e\u554f\u984c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9ad8\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff1a<\/strong> \u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u3067\u8a00\u8a9e\u7372\u5f97\u304c\u56f0\u96e3\u3067\u3042\u308a\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df\u969c\u5bb3\uff1a<\/strong> \u8457\u3057\u3044\u5438\u555c\u4e0d\u5168\u3001\u91cd\u5ea6\u306e\u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u3001\u7e70\u308a\u8fd4\u3059\u5614\u5410\u304c\u898b\u3089\u308c\u3001\u8457\u3057\u3044\u767a\u80b2\u4e0d\u5168\uff08Failure to thrive\uff09\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\uff1a<\/strong> \u4e73\u5150\u671f\u304b\u3089\u96e3\u6cbb\u6027\u306e\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8133\u6ce2\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A8%BA%E6%96%AD%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%E3%81%A8%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD\"><\/span><strong>3. \u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u3068\u9451\u5225\u8a3a\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BOS\u306e\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u7684\u306a\u30b9\u30b3\u30a2\u30ea\u30f3\u30b0\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u307e\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%E5%9F%BA%E6%BA%96\"><\/span><strong>\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4ee5\u4e0b\u306e\u6240\u898b\u304c\u63c3\u3046\u5834\u5408\u3001BOS\u304c\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>BOS\u59ff\u52e2\u306e\u5b58\u5728<\/li>\n\n\n\n<li>\u7709\u9593\u306e\u706b\u7114\u72b6\u6bcd\u6591<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\u767a\u80b2\u4e0d\u5168\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/li>\n\n\n\n<li>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u773c\u7403\u7a81\u51fa\u3001\u5c0f\u984e\u75c7\u306a\u3069\uff09<\/li>\n<\/ol>\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>ASXL1\u907a\u4f1d\u5b50\u89e3\u6790\uff1a<\/strong> \u30bf\u30fc\u30b2\u30c3\u30c8\u30b7\u30fc\u30b1\u30f3\u30b9\u3001\u307e\u305f\u306f\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u304c\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9451\u5225\u75be\u60a3\uff1a<\/strong> Cornelia de Lange\uff08\u30b3\u30eb\u30cd\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\uff09\u75c7\u5019\u7fa4\u3084\u3001Shashi-Pena\u75c7\u5019\u7fa4\u306a\u3069\u304c\u9451\u5225\u5bfe\u8c61\u3068\u306a\u308a\u307e\u3059\u304c\u3001BOS\u59ff\u52e2\u306e\u6709\u7121\u304c\u91cd\u8981\u306a\u5224\u5225\u30dd\u30a4\u30f3\u30c8\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E9%9B%86%E5%AD%A6%E7%9A%84%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88%EF%BC%9AQOL%E5%90%91%E4%B8%8A%E3%81%AE%E3%81%9F%E3%82%81%E3%81%AE%E4%BB%8B%E5%85%A5\"><\/span><strong>4. \u96c6\u5b66\u7684\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\uff1aQOL\u5411\u4e0a\u306e\u305f\u3081\u306e\u4ecb\u5165<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BOS\u306f\u591a\u7cfb\u7d71\u306e\u5408\u4f75\u75c7\u3092\u4f34\u3046\u305f\u3081\u3001\u5c0f\u5150\u79d1\u533b\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u5305\u62ec\u7684\u306a\u30c1\u30fc\u30e0\u30b1\u30a2\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%91%BC%E5%90%B8%E3%83%BB%E6%91%82%E9%A3%9F%E7%AE%A1%E7%90%86\"><\/span><strong>\u547c\u5438\u30fb\u6442\u98df\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80c3\u763b\uff08PEG\uff09\u306e\u691c\u8a0e\uff1a<\/strong> \u7d4c\u53e3\u6442\u53d6\u304c\u56f0\u96e3\u304b\u3064GERD\u304c\u91cd\u5ea6\u3067\u3042\u308b\u305f\u3081\u3001\u65e9\u671f\u306e\u80c3\u763b\u9020\u8a2d\u3084\u5674\u9580\u5f62\u6210\u8853\u304c\u63a8\u5968\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6c17\u9053\u7ba1\u7406\uff1a<\/strong> \u5c0f\u984e\u75c7\u306b\u4f34\u3046\u9589\u585e\u6027\u7761\u7720\u6642\u7121\u547c\u5438\u3078\u306e\u5bfe\u5fdc\u304c\u5fc5\u8981\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E4%BB%8B%E5%85%A5\"><\/span><strong>\u795e\u7d4c\u5b66\u7684\u4ecb\u5165<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6297\u3066\u3093\u304b\u3093\u85ac\uff1a<\/strong> \u767a\u4f5c\u306e\u578b\u306b\u5fdc\u3058\u305f\u9069\u5207\u306a\u85ac\u5264\u9078\u629e\u3002<\/li>\n\n\n\n<li><strong>\u7642\u80b2\uff08PT\/OT\uff09\uff1a<\/strong> BOS\u59ff\u52e2\u306b\u4f34\u3046\u95a2\u7bc0\u62d8\u7e2e\u306e\u4e88\u9632\u3068\u3001\u308f\u305a\u304b\u306a\u610f\u601d\u8868\u793a\u3092\u6349\u3048\u308b\u305f\u3081\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\uff08AAC\u306e\u6d3b\u7528\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%A9%E3%82%A4%E3%83%95%E3%82%B9%E3%83%86%E3%83%BC%E3%82%B8%E3%81%AB%E5%90%88%E3%82%8F%E3%81%9B%E3%81%9F%E6%94%AF%E6%8F%B4\"><\/span><strong>\u30e9\u30a4\u30d5\u30b9\u30c6\u30fc\u30b8\u306b\u5408\u308f\u305b\u305f\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u611f\u67d3\u75c7\u5bfe\u7b56\uff1a<\/strong> \u7e70\u308a\u8fd4\u3059\u8aa4\u56a5\u6027\u80ba\u708e\u3078\u306e\u6ce8\u610f\u3002<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u652f\u63f4\uff1a<\/strong> \u91cd\u5ea6\u306e\u969c\u5bb3\u3092\u62b1\u3048\u308b\u304a\u5b50\u69d8\u306e\u3054\u5bb6\u65cf\u306b\u5bfe\u3057\u3001\u30ec\u30b9\u30d1\u30a4\u30c8\u30b1\u30a2\u3084\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u3092\u63d0\u4f9b\u3059\u308b\u3053\u3068\u304c\u6975\u3081\u3066\u91cd\u8981\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=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/33782263_s-1.webp\" alt=\"\u533b\u7642\" class=\"wp-image-122284\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E4%BA%88%E5%BE%8C%E3%81%A8%E5%B1%95%E6%9C%9B\"><\/span><strong>5. \u4e88\u5f8c\u3068\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BOS\u306e\u4e88\u5f8c\u306f\u3001\u304b\u3064\u3066\u306f\u6975\u3081\u3066\u4e0d\u826f\u3068\u3055\u308c\u3066\u304d\u307e\u3057\u305f\u304c\u3001\u8fd1\u5e74\u306e\u96c6\u4e2d\u7684\u306a\u6804\u990a\u7ba1\u7406\u3068\u547c\u5438\u7ba1\u7406\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u601d\u6625\u671f\u3001\u305d\u3057\u3066\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u3059\u308b\u75c7\u4f8b\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%86%E6%9D%A5%E7%9A%84%E3%81%AA%E6%B2%BB%E7%99%82%E3%81%B8%E3%81%AE%E6%9C%9F%E5%BE%85\"><\/span><strong>\u5c06\u6765\u7684\u306a\u6cbb\u7642\u3078\u306e\u671f\u5f85<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ASXL1\u304c\u95a2\u4e0e\u3059\u308b\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u306a\u7d4c\u8def\u306f\u3001\u73fe\u5728\u304c\u3093\u7814\u7a76\u306e\u5206\u91ce\u3067\u6d3b\u767a\u306b\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u77e5\u898b\u3092\u5fdc\u7528\u3057\u3001\u30af\u30ed\u30de\u30c1\u30f3\u4fee\u98fe\u3092\u6b63\u5e38\u5316\u3059\u308b\u3088\u3046\u306a\u5206\u5b50\u6a19\u7684\u7642\u6cd5\u306e\u7814\u7a76\u304c\u3001\u5c06\u6765\u7684\u306bBOS\u306e\u75c7\u72b6\u7de9\u548c\uff08\u7279\u306b\u8133\u306e\u767a\u9054\u3084\u7b4b\u7dca\u5f35\u306e\u6539\u5584\uff09\u306b\u5bc4\u4e0e\u3059\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\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\"><\/span><strong>\u7d50\u8ad6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Bohring-Opitz\u75c7\u5019\u7fa4\uff08BOS\uff09\u306f\u3001ASXL1\u5909\u7570\u304c\u3082\u305f\u3089\u3059\u5168\u8eab\u6027\u306e\u767a\u751f\u5b66\u7684\u30a8\u30e9\u30fc\u306b\u3088\u308b\u75be\u60a3\u3067\u3059\u3002\u305d\u306e\u81e8\u5e8a\u50cf\u306f\u91cd\u7be4\u3067\u3059\u304c\u3001\u300cBOS\u59ff\u52e2\u300d\u3068\u3044\u3046\u552f\u4e00\u7121\u4e8c\u306e\u30b5\u30a4\u30f3\u3092\u624b\u304c\u304b\u308a\u306b\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u591a\u8077\u7a2e\u4ecb\u5165\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u60a3\u8005\u3055\u3093\u306e\u82e6\u75db\uff08\u5614\u5410\u3084\u767a\u4f5c\uff09\u3092\u8efd\u6e1b\u3057\u3001\u3054\u5bb6\u65cf\u3068\u5171\u306b\u6b69\u3080QOL\u3092\u652f\u3048\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u3086\u3048\u306e\u60c5\u5831\u4e0d\u8db3\u3092\u89e3\u6d88\u3059\u308b\u305f\u3081\u3001\u533b\u7642\u8005\u304c\u6700\u65b0\u306e\u907a\u4f1d\u5b66\u7684\u77e5\u898b\u3092\u5171\u6709\u3057\u3001\u500b\u3005\u306e\u75c7\u4f8b\u306b\u5bc4\u308a\u6dfb\u3063\u305f\u30aa\u30fc\u30c0\u30fc\u30e1\u30a4\u30c9\u306e\u30b1\u30a2\u3092\u63d0\u4f9b\u3057\u7d9a\u3051\u308b\u3053\u3068\u304c\u6c42\u3081\u3089\u308c\u3066\u3044\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; \/* \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","protected":false},"excerpt":{"rendered":"Bohring-Opitz\u75c7\u5019\u7fa4\uff08BOS&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":116545,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122554","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\/122554","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=122554"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122554\/revisions"}],"predecessor-version":[{"id":126205,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122554\/revisions\/126205"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/116545"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122554"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122554"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122554"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}