{"id":17373,"date":"2026-01-22T03:13:13","date_gmt":"2026-01-22T03:13:13","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17373"},"modified":"2026-01-22T03:13:57","modified_gmt":"2026-01-22T03:13:57","slug":"moebius-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/moebius-syndrome\/","title":{"rendered":"Moebius syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>\u5148\u5929\u6027\u9854\u9762\u9ebb\u75fa\uff08Congenital facial diplegia\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u5148\u5929\u6027\u773c\u7403\u5916\u8ee2\u9ebb\u75fa\u3092\u4f34\u3046\u9854\u9762\u795e\u7d4c\u9ebb\u75fa<\/strong><\/li>\n\n\n\n<li><strong>\u95a2\u9023\uff1a\u30dd\u30fc\u30e9\u30f3\u30c9\u30fb\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4 (Poland-Moebius syndrome)<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u5927\u80f8\u7b4b\u306e\u6b20\u640d\u3092\u4f34\u3046\u300c\u30dd\u30fc\u30e9\u30f3\u30c9\u75c7\u5019\u7fa4\u300d\u3092\u5408\u4f75\u3059\u308b\u30b1\u30fc\u30b9\u3092\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u95a2\u9023\uff1aCarey-Fineman-Ziter\u75c7\u5019\u7fa4<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u306b\u52a0\u3048\u3001\u7b4b\u75c5\u5909\u3084\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u30fb\u30b7\u30fc\u30b1\u30f3\u30b9\u69d8\u306e\u75c7\u72b6\u3092\u4f34\u3046\u95a2\u9023\u75be\u60a3\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>\u8907\u6570\u306e\u9818\u57df\u304c\u95a2\u4e0e\uff08\u907a\u4f1d\u7684\u7570\u8cea\u6027\uff09<\/strong><\/p>\n\n\n\n<p>\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306f\u3001\u5358\u4e00\u306e\u539f\u56e0\u3067\u8d77\u3053\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u8907\u6570\u306e\u67d3\u8272\u4f53\u4e0a\u306e\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>3\u756a\u67d3\u8272\u4f53\uff083q21-q22\u9818\u57df\uff09<\/strong>: <em>PLXND1<\/em> \u907a\u4f1d\u5b50\u306e\u95a2\u4e0e\u3002<\/li>\n\n\n\n<li><strong>13\u756a\u67d3\u8272\u4f53\uff0813q12.2-q13\u9818\u57df\uff09<\/strong>: <em>REV3L<\/em> \u907a\u4f1d\u5b50\u306e\u95a2\u4e0e\u3002<\/li>\n\n\n\n<li><strong>10\u756a\u67d3\u8272\u4f53\uff08MBS1\u9818\u57df\uff09<\/strong>: \u904e\u53bb\u306b\u5831\u544a\u304c\u3042\u308b\u5019\u88dc\u9818\u57df\u3002<\/li>\n\n\n\n<li><strong>1\u756a\u67d3\u8272\u4f53\uff08MBS3\u9818\u57df\uff09<\/strong>: \u904e\u53bb\u306b\u5831\u544a\u304c\u3042\u308b\u5019\u88dc\u9818\u57df\u3002<\/li>\n<\/ol>\n\n\n\n<p><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8cac\u4efb\u907a\u4f1d\u5b50:<\/strong> \u8fd1\u5e74\u306e\u7814\u7a76\u306b\u3088\u308a\u3001<em>PLXND1<\/em> \u304a\u3088\u3073 <em>REV3L<\/em> \u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u3001\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306e\u7279\u5b9a\u306e\u75c7\u4f8b\u306b\u304a\u3044\u3066\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u307e\u3057\u305f\u3002<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> \u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306f\u3001\u80ce\u5150\u671f\u306e\u8133\u5e79\uff08\u8133\u306e\u4e00\u90e8\uff09\u306b\u304a\u3044\u3066\u3001\u8133\u795e\u7d4c\u304c\u4f5c\u3089\u308c\u305f\u308a\u3001\u6b63\u3057\u3044\u5834\u6240\u3078\u4f38\u3073\u3066\u3044\u3063\u305f\u308a\u3059\u308b\u30d7\u30ed\u30bb\u30b9\u3092\u5236\u5fa1\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong> \u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u751f\u3058\u308b\u3068\u3001\u7279\u306b**\u7b2c6\u8133\u795e\u7d4c\uff08\u5916\u8ee2\u795e\u7d4c\uff09<strong>\u3068<\/strong>\u7b2c7\u8133\u795e\u7d4c\uff08\u9854\u9762\u795e\u7d4c\uff09**\u306e\u6838\u304c\u5f62\u6210\u3055\u308c\u306a\u304b\u3063\u305f\u308a\u3001\u795e\u7d4c\u304c\u7b4b\u8089\u307e\u3067\u5230\u9054\u3057\u306a\u304b\u3063\u305f\u308a\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u795e\u7d4c\u304b\u3089\u306e\u4fe1\u53f7\u304c\u9854\u306e\u7b4b\u8089\u3084\u76ee\u3092\u52d5\u304b\u3059\u7b4b\u8089\u306b\u4f1d\u308f\u3089\u305a\u3001\u9ebb\u75fa\u304c\u751f\u3058\u307e\u3059\u3002\u307e\u305f\u3001\u304b\u3064\u3066\u306f\u300c\u8840\u7ba1\u8aac\uff08\u80ce\u5150\u671f\u306e\u8133\u5e79\u3078\u306e\u8840\u6d41\u969c\u5bb3\uff09\u300d\u3082\u6709\u529b\u8996\u3055\u308c\u3066\u304a\u308a\u3001\u907a\u4f1d\u7684\u8981\u56e0\u3068\u74b0\u5883\u7684\u8981\u56e0\u306e\u4e21\u65b9\u304c\u691c\u8a0e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7d0450,000\u4eba \u301c 500,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e0c\u5c11\u75be\u60a3:<\/strong> \u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u3069\u3061\u3089\u306e\u6027\u5225\u3067\u3082\u540c\u7b49\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65e5\u672c\u56fd\u5185:<\/strong> \u6b63\u78ba\u306a\u7d71\u8a08\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5168\u56fd\u3067\u6570\u767e\u4eba\u304b\u3089\u5343\u4eba\u7a0b\u5ea6\u306e\u60a3\u8005\u6570\u304c\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306e\u4e3b\u306a\u75c7\u72b6\u306f\u3001\u8133\u795e\u7d4c\u306e\u6b20\u640d\u306b\u7531\u6765\u3059\u308b\u6a5f\u80fd\u4e0d\u5168\u3067\u3059\u3002\u77e5\u80fd\u306f\u6b63\u5e38\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5916\u898b\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u9762\u3067\u5927\u304d\u306a\u56f0\u96e3\u3092\u4f34\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u9854\u9762\u306e\u75c7\u72b6\uff08\u7b2c7\u8133\u795e\u7d4c\u9ebb\u75fa\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7121\u8868\u60c5\uff08\u4eee\u9762\u69d8\u9854\u8c8c\uff09:<\/strong> \u9854\u306e\u7b4b\u8089\u3092\u52d5\u304b\u3059\u3053\u3068\u304c\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u7b11\u3046\u3001\u6012\u308b\u3001\u60b2\u3057\u3080\u3068\u3044\u3063\u305f\u8868\u60c5\u3092\u4f5c\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u305b\u3093\u3002\u6ce3\u3044\u3066\u3044\u308b\u3068\u304d\u3082\u58f0\u306f\u51fa\u307e\u3059\u304c\u3001\u9854\u306f\u52d5\u304d\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u306e\u6a5f\u80fd\u4e0d\u5168:<\/strong> \u5507\u3092\u9589\u3058\u308b\u3053\u3068\u304c\u96e3\u3057\u304f\u3001\u3088\u3060\u308c\u304c\u51fa\u3084\u3059\u304b\u3063\u305f\u308a\u3001\u8a00\u8449\u306e\u767a\u97f3\uff08\u7279\u306b\u300c\u30d1\u884c\u300d\u300c\u30de\u884c\u300d\u300c\u30d0\u884c\u300d\u306a\u3069\u306e\u5507\u3092\u4f7f\u3046\u97f3\uff09\u304c\u4e0d\u660e\u77ad\u306b\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9589\u773c\u56f0\u96e3:<\/strong> \u5bdd\u3066\u3044\u308b\u3068\u304d\u3082\u5b8c\u5168\u306b\u76ee\u304c\u9589\u3058\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u3001\u773c\u7403\u306e\u4e7e\u71e5\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u773c\u306e\u75c7\u72b6\uff08\u7b2c6\u8133\u795e\u7d4c\u9ebb\u75fa\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u7403\u5916\u8ee2\u9ebb\u75fa:<\/strong> \u76ee\u3092\u5916\u5074\uff08\u8033\u306e\u65b9\u5411\uff09\u306b\u52d5\u304b\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u305b\u3093\u3002\u5de6\u53f3\u3092\u898b\u308b\u3068\u304d\u306f\u3001\u76ee\u3092\u52d5\u304b\u3059\u306e\u3067\u306f\u306a\u304f\u3001\u982d\u3092\u6a2a\u306b\u632f\u3063\u3066\u5bfe\u5fdc\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u659c\u8996:<\/strong> \u76ee\u306e\u4f4d\u7f6e\u304c\u5185\u5074\u306b\u5bc4\u308b\u5185\u659c\u8996\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7acb\u4f53\u8996\u306e\u969c\u5bb3\u306b\u7e4b\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u53e3\u8154\u30fb\u6442\u98df\u306e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u54fa\u4e73\u30fb\u56a5\u4e0b\u56f0\u96e3:<\/strong> \u5507\u3084\u820c\u306e\u52d5\u304d\u304c\u5236\u9650\u3055\u308c\u308b\u305f\u3081\u3001\u8d64\u3061\u3083\u3093\u306e\u6642\u671f\u306b\u30df\u30eb\u30af\u3092\u5438\u3046\u529b\u304c\u5f31\u304b\u3063\u305f\u308a\u3001\u98f2\u307f\u8fbc\u307f\u306b\u6642\u9593\u304c\u304b\u304b\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u820c\u306e\u840e\u7e2e:<\/strong> \u7b2c12\u8133\u795e\u7d4c\uff08\u820c\u4e0b\u795e\u7d4c\uff09\u304c\u4fb5\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u820c\u304c\u5c0f\u3055\u304f\u3001\u52d5\u304d\u304c\u60aa\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9ad8\u53e3\u84cb\u30fb\u5c0f\u984e\u75c7:<\/strong> \u53e3\u306e\u4e2d\u306e\u5929\u4e95\u304c\u9ad8\u304b\u3063\u305f\u308a\u3001\u3042\u3054\u304c\u5c0f\u3055\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u9aa8\u683c\u304a\u3088\u3073\u5168\u8eab\u306e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u624b\u8db3\u306e\u7570\u5e38:<\/strong> \u68cd\u68d2\u8db3\uff08\u8db3\u306e\u5411\u304d\u304c\u5185\u5074\u306b\u306d\u3058\u308c\u308b\uff09\u3001\u5408\u6307\u75c7\uff08\u6307\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u308b\uff09\u3001\u77ed\u6307\u75c7\u306a\u3069\u304c\u7d0430\u301c40\uff05\u306e\u5272\u5408\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30dd\u30fc\u30e9\u30f3\u30c9\u75c7\u5019\u7fa4\u306e\u5408\u4f75:<\/strong> \u7247\u5074\u306e\u5927\u80f8\u7b4b\u304c\u6b20\u640d\u3057\u3001\u80f8\u306e\u5f62\u304c\u5de6\u53f3\u975e\u5bfe\u79f0\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b:<\/strong> \u4e73\u5150\u671f\u306b\u5168\u8eab\u306e\u7b4b\u529b\u304c\u5f31\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u7cbe\u795e\u30fb\u767a\u9054\u9762<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u80fd:<\/strong> \u591a\u304f\u306e\u60a3\u8005\u306b\u304a\u3044\u3066\u77e5\u80fd\u306f\u6b63\u5e38\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u7684\u50be\u5411:<\/strong> \u4e00\u90e8\u306e\u75c7\u4f8b\u3067ASD\u7684\u306a\u7279\u6027\u3084\u5bfe\u4eba\u95a2\u4fc2\u306e\u56f0\u96e3\u3055\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u300c\u8868\u60c5\u306b\u3088\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u53d6\u308c\u306a\u3044\u3053\u3068\u300d\u306b\u3088\u308b\u4e8c\u6b21\u7684\u306a\u5f71\u97ff\u3082\u5927\u304d\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>\u907a\u4f1d\u7684\u8981\u56e0\u304a\u3088\u3073\u74b0\u5883\u8981\u56e0\uff08\u8840\u7ba1\u969c\u5bb3\u8aac\u306a\u3069\uff09<\/strong><\/p>\n\n\n\n<p>\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u306f\u3001\u73fe\u5728\u3067\u3082\u5b8c\u5168\u306b\u4e00\u3064\u306b\u306f\u7279\u5b9a\u3055\u308c\u3066\u304a\u3089\u305a\u3001\u4ee5\u4e0b\u306e\u8aac\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5b50\u5909\u7570\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u524d\u8ff0\u306e <em>PLXND1<\/em> \u3084 <em>REV3L<\/em> \u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3002\u3053\u308c\u3089\u306f\u591a\u304f\u306e\u5834\u5408\u3001\u5bb6\u65cf\u306b\u540c\u3058\u75c5\u6c17\u306e\u4eba\u304c\u3044\u306a\u3044\u300c\u65b0\u751f\u7a81\u7136\u5909\u7570\u300d\u3068\u3057\u3066\u767a\u751f\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u80ce\u5150\u671f\u306e\u8840\u7ba1\u969c\u5bb3\u8aac:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u598a\u5a20\u521d\u671f\uff08\u7279\u306b5\u301c8\u9031\u9803\uff09\u306b\u3001\u8133\u5e79\u306e\u4e00\u90e8\u3067\u3042\u308b\u300c\u6a4b\uff08\u304d\u3087\u3046\uff09\u300d\u3078\u306e\u8840\u6d41\u304c\u4e00\u6642\u7684\u306b\u906e\u65ad\u3055\u308c\u3001\u305d\u306e\u9818\u57df\u306e\u795e\u7d4c\u6838\u304c\u7834\u58ca\u3055\u308c\u305f\u305f\u3081\u306b\u8d77\u3053\u308b\u3068\u3044\u3046\u8aac\u3067\u3059\u3002\u7279\u5b9a\u306e\u85ac\u5264\uff08\u30df\u30bd\u30d7\u30ed\u30b9\u30c8\u30fc\u30eb\u306a\u3069\uff09\u306e\u670d\u7528\u304c\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u3068\u3044\u3046\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u5834\u5408\u306f\u539f\u56e0\u4e0d\u660e\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u4e3b\u306b\u81e8\u5e8a\u75c7\u72b6\u306b\u57fa\u3065\u3044\u3066\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8eab\u4f53\u8a3a\u5bdf:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u751f\u307e\u308c\u3064\u304d\u306e\u9854\u9762\u795e\u7d4c\u9ebb\u75fa\uff08\u8868\u60c5\u306e\u6b20\u5982\uff09\u3068\u3001\u5916\u8ee2\u795e\u7d4c\u9ebb\u75fa\uff08\u76ee\u306e\u6a2a\u65b9\u5411\u306e\u52d5\u304d\u306e\u6b20\u5982\uff09\u306e\u4e21\u65b9\u304c\u63c3\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8133MRI\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u5e79\uff08\u6a4b\u306e\u90e8\u5206\uff09\u304c\u5e73\u5766\u306b\u306a\u3063\u3066\u3044\u305f\u308a\u3001\u8133\u795e\u7d4c\u306e\u6838\u304c\u6b20\u640d\u3057\u3066\u3044\u308b\u69d8\u5b50\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u96fb\u56f3\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9854\u306e\u7b4b\u8089\u306b\u96fb\u6c17\u304c\u901a\u3063\u3066\u3044\u308b\u304b\u3001\u795e\u7d4c\u304c\u751f\u304d\u3066\u3044\u308b\u304b\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306a\u3069\u306b\u3088\u308a\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u308a\u3064\u3064\u3042\u308a\u307e\u3059\u304c\u3001\u3059\u3079\u3066\u306e\u60a3\u8005\u3067\u5909\u7570\u304c\u898b\u3064\u304b\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\uff08\u795e\u7d4c\u3092\u518d\u751f\u3055\u305b\u308b\u65b9\u6cd5\uff09\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u624b\u8853\u3084\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306b\u3088\u3063\u3066\u6a5f\u80fd\u3092\u6539\u5584\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u300c\u7b11\u9854\u306e\u624b\u8853\u300d\uff08\u52d5\u7684\u518d\u5efa\u8853\uff09<\/strong><\/p>\n\n\n\n<p>\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306e\u6cbb\u7642\u306b\u304a\u3044\u3066\u6700\u3082\u753b\u671f\u7684\u306a\u624b\u8853\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u904a\u96e2\u7b4b\u8089\u79fb\u690d:<\/strong> \u592a\u3082\u3082\u306e\u7b4b\u8089\uff08\u8584\u7b4b\uff09\u306a\u3069\u3092\u795e\u7d4c\u3084\u8840\u7ba1\u3068\u3068\u3082\u306b\u9854\u306b\u79fb\u690d\u3057\u3001\u54ac\u7b4b\uff08\u565b\u3080\u305f\u3081\u306e\u795e\u7d4c\uff09\u306a\u3069\u306b\u7e4b\u304e\u5408\u308f\u305b\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u5965\u6b6f\u3092\u565b\u307f\u7de0\u3081\u308b\u52d5\u304d\u306b\u5408\u308f\u305b\u3066\u300c\u53e3\u89d2\u3092\u4e0a\u3052\u3001\u7b11\u9854\u3092\u4f5c\u308b\u300d\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u773c\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u659c\u8996\u624b\u8853:<\/strong> \u5185\u659c\u8996\u3092\u77ef\u6b63\u3057\u3001\u6b63\u9762\u3092\u5411\u3044\u305f\u3068\u304d\u306e\u76ee\u306e\u4f4d\u7f6e\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u89d2\u819c\u4fdd\u8b77:<\/strong> \u76ee\u304c\u9589\u3058\u304d\u3089\u306a\u3044\u3053\u3068\u306b\u3088\u308b\u4e7e\u71e5\uff08\u30c9\u30e9\u30a4\u30a2\u30a4\uff09\u3092\u9632\u3050\u305f\u3081\u3001\u70b9\u773c\u85ac\u306e\u4f7f\u7528\u3084\u3001\u91cd\u75c7\u306e\u5834\u5408\u306f\u307e\u3076\u305f\u3092\u4e00\u90e8\u7e2b\u3044\u5408\u308f\u305b\u308b\u624b\u8853\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6b6f\u79d1\u30fb\u53e3\u8154\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09:<\/strong> \u767a\u97f3\u306e\u8a13\u7df4\u3084\u3001\u98f2\u307f\u8fbc\u307f\u306e\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u5217\u77ef\u6b63:<\/strong> \u3042\u3054\u306e\u5f62\u3084\u6b6f\u4e26\u3073\u306e\u7570\u5e38\u306b\u5bfe\u3059\u308b\u77ef\u6b63\u6cbb\u7642\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u68cd\u68d2\u8db3\u3084\u5408\u6307\u75c7\u306b\u5bfe\u3059\u308b\u77ef\u6b63\u624b\u8853\u3001\u88c5\u5177\u7642\u6cd5\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u5fc3\u7406\u7684\u30fb\u793e\u4f1a\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4:<\/strong> \u8868\u60c5\u304c\u4f5c\u308c\u306a\u3044\u3053\u3068\u3067\u300c\u51b7\u305f\u3044\u300d\u300c\u6012\u3063\u3066\u3044\u308b\u300d\u3068\u8aa4\u89e3\u3055\u308c\u3084\u3059\u3044\u305f\u3081\u3001\u8eab\u632f\u308a\u624b\u632f\u308a\u3084\u8a00\u8449\u306e\u30c8\u30fc\u30f3\u3001\u3042\u308b\u3044\u306f\u81ea\u8eab\u306e\u75c7\u72b6\u306b\u3064\u3044\u3066\u5468\u56f2\u306b\u8aac\u660e\u3059\u308b\u30b9\u30ad\u30eb\u306e\u7372\u5f97\u3092\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30d4\u30a2\u30b5\u30dd\u30fc\u30c8:<\/strong> \u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u60a3\u8005\u4f1a\u3078\u306e\u53c2\u52a0\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5b58\u671f\u9593:<\/strong> \u547c\u5438\u3084\u98f2\u307f\u8fbc\u307f\u306b\u91cd\u7be4\u306a\u554f\u984c\u304c\u306a\u3044\u9650\u308a\u3001\u5bff\u547d\u306f\u4e00\u822c\u306e\u65b9\u3068\u5909\u308f\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u793e\u4f1a\u5fa9\u5e30:<\/strong> \u591a\u304f\u306e\u60a3\u8005\u304c\u901a\u5e38\u306e\u6559\u80b2\u3092\u53d7\u3051\u3001\u5c31\u8077\u3057\u3001\u5bb6\u5ead\u3092\u7bc9\u3044\u3066\u3044\u307e\u3059\u3002\u7b11\u9854\u306e\u624b\u8853\u3084\u8a00\u8a9e\u7642\u6cd5\u306b\u3088\u308a\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u306f\u5927\u304d\u304f\u5411\u4e0a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Moebius syndrome\uff08\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\uff09\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u8868\u60c5\u3092\u4f5c\u308b\u3053\u3068\u304c\u3067\u304d\u305a\u3001\u76ee\u3092\u6a2a\u306b\u52d5\u304b\u3059\u3053\u3068\u304c\u3067\u304d\u306a\u3044\u3068\u3044\u3046\u3001\u975e\u5e38\u306b\u73cd\u3057\u3044\u7279\u6027\u3092\u6301\u3064\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u611f\u60c5\u304c\u306a\u3044\u300d\u3068\u8aa4\u89e3\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5fc3\u306e\u4e2d\u306f\u4ed6\u306e\u4eba\u3068\u540c\u3058\u3088\u3046\u306b\u8c4a\u304b\u3067\u3001\u559c\u3073\u3082\u60b2\u3057\u307f\u3082\u611f\u3058\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3001\u305d\u308c\u3092\u9854\u306e\u7b4b\u8089\u3067\u8868\u73fe\u3059\u308b\u3053\u3068\u304c\u96e3\u3057\u3044\u3060\u3051\u306a\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u300c\u7b11\u9854\u306e\u624b\u8853\u300d\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u591a\u304f\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u53ef\u80fd\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u30ea\u30cf\u30d3\u30ea\u3084\u624b\u8853\u3001\u305d\u3057\u3066\u5468\u56f2\u306e\u7406\u89e3\u304c\u3042\u308c\u3070\u3001\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306e\u65b9\u3005\u306f\u793e\u4f1a\u306e\u4e2d\u3067\u7d20\u6674\u3089\u3057\u3044\u624d\u80fd\u3092\u767a\u63ee\u3057\u3001\u81ea\u5206\u3089\u3057\u3044\u4eba\u751f\u3092\u6b69\u3093\u3067\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u8a8d\u77e5\u3092\u5e83\u3081\u308b\u3053\u3068\u306f\u3001\u60a3\u8005\u3055\u3093\u305f\u3061\u304c\u300c\u5916\u898b\u300d\u3068\u3044\u3046\u58c1\u3092\u8d85\u3048\u3066\u3001\u81ea\u5206\u3089\u3057\u304f\u751f\u304d\u308b\u305f\u3081\u306e\u7b2c\u4e00\u6b69\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>M\u00f6bius, P. J.<\/strong> (1888). <em>\u00dcber angeborene doppelseitige Abducens-Facialis-L\u00e4hmung.<\/em> M\u00fcnchener Medizinische Wochenschrift.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30d1\u30a6\u30eb\u30fb\u30e6\u30ea\u30a6\u30b9\u30fb\u30e1\u30d3\u30a6\u30b9\u535a\u58eb\u306b\u3088\u308b\u6700\u521d\u306e\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Tomas-Roca, L., et al.<\/strong> (2015). <em>De novo mutations in PLXND1 and REV3L cause M\u00f6bius syndrome.<\/em> Nature Communications.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3057\u305f\u753b\u671f\u7684\u306a\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Zuker, R. M., et al.<\/strong> (2000). <em>Facial animation in children with Moebius syndrome after segmental gracilis muscle transplant.<\/em> Plastic and Reconstructive Surgery.\n<ul class=\"wp-block-list\">\n<li>\uff08\u300c\u7b11\u9854\u306e\u624b\u8853\u300d\u306e\u6709\u52b9\u6027\u3068\u624b\u6cd5\u3092\u78ba\u7acb\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Moebius Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u8a3a\u65ad\u3001\u81e8\u5e8a\u50cf\u3001\u7ba1\u7406\u306b\u95a2\u3059\u308b\u4e16\u754c\u7684\u6a19\u6e96\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Moebius Syndrome Foundation<\/strong>: <em>Education and Resources for Families<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u56fd\u969b\u7684\u306a\u60a3\u8005\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>Moebius syndrome (ORPHA:570)<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u75be\u60a3\u306e\u56fd\u969b\u30dd\u30fc\u30bf\u30eb\u306b\u3088\u308b\u6982\u8981\u60c5\u5831\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Verzijl, H. T., et al.<\/strong> (2003). <em>M\u00f6bius syndrome: a neurological spectrum disorder.<\/em> Brain.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u3092\u8133\u795e\u7d4c\u5168\u4f53\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u3068\u3057\u3066\u6349\u3048\u305f\u5305\u62ec\u7684\u30ec\u30d3\u30e5\u30fc\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17373","genetic-screening","type-genetic-screening","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17373","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17373\/revisions"}],"predecessor-version":[{"id":17376,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17373\/revisions\/17376"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17373"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}