{"id":17366,"date":"2026-01-22T03:06:34","date_gmt":"2026-01-22T03:06:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17366"},"modified":"2026-01-22T03:06:34","modified_gmt":"2026-01-22T03:06:34","slug":"mesomelia-synostoses-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/mesomelia-synostoses-syndrome\/","title":{"rendered":"Mesomelia-synostoses 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>MSS<\/strong><\/li>\n\n\n\n<li><strong>\u80a2\u4e2d\u9593\u90e8\u77ed\u7e2e\u578b\u7570\u5f62\u6210\u75c7\u30fb\u9aa8\u7652\u5408\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>\u95a2\u9023\uff1aVerloes-David-Pfeiffer\u75c7\u5019\u7fa4<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b1995\u5e74\u306b\u3053\u306e\u75be\u60a3\u3092\u5831\u544a\u3057\u305f\u533b\u5e2b\u305f\u3061\u306e\u540d\u3092\u51a0\u3057\u305f\u65e7\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u95a2\u9023\uff1a\u80a2\u4e2d\u9593\u90e8\u77ed\u7e2e\uff08Mesomelia\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u524d\u8155\u3084\u4e0b\u817f\u3068\u3044\u3063\u305f\u3001\u56db\u80a2\u306e\u4e2d\u9593\u90e8\u5206\u304c\u7279\u7570\u7684\u306b\u77ed\u3044\u72b6\u614b\u3092\u6307\u3059\u533b\u5b66\u7528\u8a9e\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>8\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0913\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u30018\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u4f4d\u7f6e\u3059\u308b <strong>SULF1\u907a\u4f1d\u5b50\u304a\u3088\u3073SLCO5A1\u907a\u4f1d\u5b50\u3092\u542b\u3080\u5fae\u5c0f\u306a\u6b20\u5931<\/strong>\u3001\u3042\u308b\u3044\u306f\u305d\u306e\u8fd1\u508d\u306e\u69cb\u9020\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\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\u9818\u57df:<\/strong> 8q13.2-q13.3<\/li>\n\n\n\n<li><strong>\u4e3b\u8981\u306a\u95a2\u4e0e\u907a\u4f1d\u5b50:<\/strong> <em>SULF1<\/em> (Sulfatase 1)<\/li>\n\n\n\n<li><strong>\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong> <em>SULF1<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u8868\u9762\u306e\u300c\u30d8\u30d1\u30e9\u30f3\u786b\u9178\u30d7\u30ed\u30c6\u30aa\u30b0\u30ea\u30ab\u30f3\u300d\u3068\u3044\u3046\u7269\u8cea\u306e\u4fee\u98fe\u3092\u884c\u3046\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30d7\u30ed\u30bb\u30b9\u306f\u3001\u9aa8\u306e\u5f62\u6210\u3084\u6210\u9577\u306b\u4e0d\u53ef\u6b20\u306a\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\uff08BMP\u30b7\u30b0\u30ca\u30eb\u3084Wnt\u30b7\u30b0\u30ca\u30eb\u306a\u3069\uff09\u3092\u8abf\u7bc0\u3059\u308b\u305f\u3081\u306b\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30cf\u30d7\u30ed\u4e0d\u5168:<\/strong> 8q13\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\u306b\u3088\u308a\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u306e\u67d3\u8272\u4f53\u3067\u5931\u308f\u308c\u308b\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3053\u3068\u3067\u3001\u6210\u9577\u677f\u306e\u8edf\u9aa8\u7d30\u80de\u306e\u5206\u5316\u3084\u9aa8\u306e\u5206\u96e2\u304c\u6b63\u5e38\u306b\u9032\u307e\u305a\u3001\u9aa8\u306e\u77ed\u7e2e\u3084\u672c\u6765\u5206\u304b\u308c\u3066\u3044\u308b\u3079\u304d\u9aa8\u540c\u58eb\u306e\u7652\u5408\u304c\u751f\u3058\u308b\u3068\u8003\u3048\u3089\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>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u78ba\u306a\u983b\u5ea6:<\/strong> \u4e16\u754c\u7684\u306a\u7d71\u8a08\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u304c\u3001\u3053\u308c\u307e\u3067\u306b\u533b\u5b66\u6587\u732e\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u5bb6\u7cfb\u306f\u4e16\u754c\u4e2d\u3067<strong>10\u5bb6\u7cfb\u3001\u6570\u5341\u4f8b\u7a0b\u5ea6<\/strong>\u306b\u7559\u307e\u308b\u3001\u6975\u3081\u3066\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u73fe\u72b6:<\/strong> \u7279\u5fb4\u7684\u306aX\u7dda\u6240\u898b\u304c\u3042\u308b\u305f\u3081\u3001\u9aa8\u7cfb\u7d71\u75be\u60a3\u306e\u5c02\u9580\u533b\u3067\u3042\u308c\u3070\u8a3a\u65ad\u53ef\u80fd\u3067\u3059\u304c\u3001\u3042\u307e\u308a\u306e\u5e0c\u5c11\u3055\u3086\u3048\u306b\u3001\u4e00\u822c\u7684\u306a\u5c0f\u5150\u79d1\u3067\u306f\u300c\u539f\u56e0\u4e0d\u660e\u306e\u591a\u767a\u5947\u5f62\u75c7\u5019\u7fa4\u300d\u3068\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\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>MSS\u306f\u3001\u56db\u80a2\u306e\u9aa8\u683c\u7570\u5e38\u3092\u6838\u3068\u3057\u3001\u9854\u8c8c\u3084\u8edf\u90e8\u7d44\u7e54\u3001\u3055\u3089\u306b\u306f\u5185\u81d3\u306e\u5408\u4f75\u75c7\u3092\u4f34\u3046\u591a\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u9aa8\u683c\u7cfb\u306e\u7279\u5fb4\uff08\u6700\u3082\u9855\u8457\u306a\u75c7\u72b6\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80a2\u4e2d\u9593\u90e8\u77ed\u7e2e\uff08Mesomelia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0a\u8155\u3084\u5927\u817f\uff08\u8fd1\u4f4d\u90e8\uff09\u3067\u306f\u306a\u304f\u3001**\u300c\u524d\u8155\uff08\u6a48\u9aa8\u30fb\u5c3a\u9aa8\uff09\u300d\u304a\u3088\u3073\u300c\u4e0b\u817f\uff08\u811b\u9aa8\u30fb\u8153\u9aa8\uff09\u300d**\u304c\u7279\u7570\u7684\u306b\u77ed\u3044\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u5168\u4f53\u7684\u306b\u4f4e\u8eab\u9577\u3068\u306a\u308a\u3001\u8155\u3084\u811a\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u72ec\u7279\u306a\u3082\u306e\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u7652\u5408\uff08Synostoses\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u624b\u6839\u9aa8\u30fb\u8db3\u6839\u9aa8\u306e\u7652\u5408:<\/strong> \u624b\u9996\u3084\u8db3\u9996\u306b\u3042\u308b\u5c0f\u3055\u306a\u9aa8\u540c\u58eb\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8098\u95a2\u7bc0\u306e\u7652\u5408\/\u8131\u81fc:<\/strong> \u8098\u306e\u95a2\u7bc0\u304c\u7652\u5408\u3057\u3066\u52d5\u304b\u305b\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u6a48\u9aa8\u982d\u304c\u8131\u81fc\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u690e\u4f53\u306e\u7652\u5408:<\/strong> \u80cc\u9aa8\u306e\u9aa8\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u624b\u8db3\u306e\u5909\u5f62:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6307\u306e\u77ed\u7e2e\uff08\u77ed\u6307\u75c7\uff09\u3084\u3001\u4e2d\u624b\u9aa8\u30fb\u4e2d\u8db3\u9aa8\u306e\u7570\u5e38\u306a\u5f62\u614b\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Features\uff09<\/strong><\/p>\n\n\n\n<p>\u5171\u901a\u3057\u305f\u72ec\u7279\u306e\u9854\u7acb\u3061\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9ad8\u3044\u984d:<\/strong> \u984d\u304c\u5e83\u304f\u3001\u7a81\u304d\u51fa\u3057\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u773c\u9593\u958b\u96e2:<\/strong> \u4e21\u76ee\u306e\u9593\u9694\u304c\u5e83\u3044\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u88c2\u659c\u4e0b:<\/strong> \u76ee\u5c3b\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\uff08\u30bf\u30ec\u76ee\uff09\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u3044\u9f3b\u6839\u90e8:<\/strong> \u9f3b\u306e\u4ed8\u3051\u6839\u304c\u5e73\u5766\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u3055\u306a\u53e3\u3068\u984e:<\/strong> \u5507\u304c\u8584\u304f\u3001\u3042\u3054\u304c\u5c0f\u3055\u3044\uff08\u5c0f\u984e\u75c7\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8033\u306e\u7570\u5e38:<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09\u3001\u5f8c\u65b9\u306b\u56de\u8ee2\u3057\u3066\u3044\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8edf\u90e8\u7d44\u7e54\u30fb\u305d\u306e\u4ed6\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u591a\u6bdb\u75c7:<\/strong> \u80cc\u4e2d\u3084\u56db\u80a2\u306b\u6fc3\u3044\u7523\u6bdb\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u306e\u3072\u3060:<\/strong> \u95a2\u7bc0\u306e\u5468\u308a\u306a\u3069\u306b\u4f59\u5206\u306a\u76ae\u819a\u306e\u3072\u3060\uff08\u7ffc\u72b6\u9838\u306a\u3069\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5589\u982d\u30fb\u6c17\u7ba1\u306e\u7570\u5e38:<\/strong> \u5589\u982d\u8edf\u5316\u75c7\u3084\u6c17\u7ba1\u306e\u72ed\u7a84\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u547c\u5438\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5185\u81d3\u304a\u3088\u3073\u795e\u7d4c\u767a\u9054<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3:<\/strong> \u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u4e2d\u9694\u6b20\u640d\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38:<\/strong> \u814e\u6b20\u640d\u3084\u5c3f\u9053\u4e0b\u88c2\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede:<\/strong> \u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u77e5\u80fd\u304c\u6b63\u5e38\u7bc4\u56f2\u5185\u306b\u7559\u307e\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3067\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>8q13\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5f62\u5f0f:<\/strong><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d<\/strong> \u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u306e\u30da\u30a2\u306e\u3046\u3061\u3001\u7247\u65b9\u306b\u6b20\u5931\u304c\u3042\u308b\u3060\u3051\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65b0\u751f\u5909\u7570\u3068\u7d99\u627f:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7d99\u627f\u4f8b:<\/strong> \u89aa\u304b\u3089\u5b50\u307850\uff05\u306e\u78ba\u7387\u3067\u907a\u4f1d\u3057\u305f\u5bb6\u7cfb\u304c\u8907\u6570\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u89aa\u304c\u8efd\u75c7\u3067\u3001\u5b50\u4f9b\u306e\u8a3a\u65ad\u3092\u304d\u3063\u304b\u3051\u306b\u89aa\u306e\u9aa8\u306e\u7652\u5408\u304c\u5224\u660e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65b0\u751f\u5909\u7570:<\/strong> \u5065\u5eb7\u306a\u4e21\u89aa\u304b\u3089\u7a81\u7136\u5909\u7570\u3068\u3057\u3066\u751f\u307e\u308c\u308b\u30b1\u30fc\u30b9\u3082\u5b58\u5728\u3057\u307e\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>\u81e8\u5e8a\u7684\u306a\u8eab\u4f53\u7684\u7279\u5fb4\u3068\u3001X\u7dda\u691c\u67fb\u306b\u3088\u308b\u9aa8\u306e\u8a55\u4fa1\u3001\u305d\u3057\u3066\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u8eab\u9aa8\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb\uff08Skeletal Survey\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>MSS\u8a3a\u65ad\u306e\u6700\u3082\u91cd\u8981\u306a\u30b9\u30c6\u30c3\u30d7\u3067\u3059\u3002\u524d\u8155\u30fb\u4e0b\u817f\u306e\u77ed\u7e2e\u3001\u624b\u6839\u9aa8\u30fb\u8db3\u6839\u9aa8\u306e\u7652\u5408\u3001\u6a48\u9aa8\u982d\u8131\u81fc\u306a\u3069\u306e\u7279\u5fb4\u7684\u306a\u30d1\u30bf\u30fc\u30f3\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9<\/strong>\u3067\u3059\u30028q13\u9818\u57df\u306b\u5fae\u5c0f\u306a\u6b20\u5931\u304c\u3042\u308b\u3053\u3068\u3092\u8a3c\u660e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8eab\u4f53\u8a3a\u5bdf:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80a2\u4e2d\u9593\u90e8\u77ed\u7e2e\u306e\u6709\u7121\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u95a2\u7bc0\u306e\u53ef\u52d5\u57df\u5236\u9650\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u30a8\u30b3\u30fc\u30fb\u8179\u90e8\u30a8\u30b3\u30fc:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5185\u81d3\u5408\u4f75\u75c7\uff08\u5fc3\u5947\u5f62\u3001\u814e\u5947\u5f62\uff09\u3092\u691c\u7d22\u3059\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u3067\u3059\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>\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u67d3\u8272\u4f53\u306e\u6b20\u5931\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001\u6a5f\u80fd\u969c\u5bb3\u306e\u6539\u5584\u3068\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u3092\u4e2d\u5fc3\u3068\u3057\u305f**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d**\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u95a2\u7bc0\u53ef\u52d5\u57df\u306e\u6539\u5584:<\/strong> \u8098\u3084\u624b\u8db3\u306e\u7652\u5408\u3001\u8131\u81fc\u306b\u5bfe\u3057\u3001\u6a5f\u80fd\u7684\u306a\u5236\u9650\u304c\u5f37\u3044\u5834\u5408\u306b\u306f\u3001\u5916\u79d1\u7684\u306a\u77ef\u6b63\u8853\u3084\u95a2\u7bc0\u5f62\u6210\u8853\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80a2\u5ef6\u9577\u8853:<\/strong> \u6975\u7aef\u306a\u8db3\u306e\u77ed\u7e2e\u304c\u3042\u308a\u3001\u5c06\u6765\u7684\u306a\u6b69\u884c\u3084\u751f\u6d3b\u306b\u652f\u969c\u304c\u3042\u308b\u5834\u5408\u3001\u9aa8\u5ef6\u9577\u8853\uff08\u30a4\u30ea\u30b6\u30ed\u30d5\u6cd5\u306a\u3069\uff09\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001MSS\u306b\u304a\u3051\u308b\u9069\u5fdc\u306f\u614e\u91cd\u306b\u5224\u65ad\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u95a2\u7bc0\u306e\u67d4\u8edf\u6027\u3092\u7dad\u6301\u3057\u3001\u7b4b\u529b\u3092\u5f37\u5316\u3059\u308b\u305f\u3081\u306b\u65e9\u671f\u304b\u3089\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u547c\u5438\u30fb\u8033\u9f3b\u54bd\u5589\u79d1\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5589\u982d\u8edf\u5316\u75c7\u3084\u6c17\u7ba1\u72ed\u7a84\u304c\u3042\u308b\u5834\u5408\u3001\u4e73\u5e7c\u5150\u671f\u306e\u547c\u5438\u7ba1\u7406\u304c\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002\u91cd\u75c7\u306e\u5834\u5408\u306f\u6c17\u7ba1\u5207\u958b\u304c\u5fc5\u8981\u306b\u306a\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u4ecb\u5165:<\/strong> \u904b\u52d5\u767a\u9054\u3084\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3084\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2:<\/strong> \u77e5\u7684\u30fb\u8eab\u4f53\u7684\u72b6\u6cc1\u306b\u5408\u308f\u305b\u305f\u9069\u5207\u306a\u5b66\u7fd2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5916\u79d1\u7684\u4ecb\u5165\uff08\u5185\u81d3\u5408\u4f75\u75c7\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3084\u6ccc\u5c3f\u5668\u5947\u5f62\u306b\u5bfe\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5916\u79d1\u624b\u8853\u3092\u884c\u3044\u307e\u3059\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\u547d\u4e88\u5f8c:<\/strong> \u547c\u5438\u5668\u3084\u5fc3\u81d3\u306e\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u304c\u9069\u5207\u306b\u7ba1\u7406\u3055\u308c\u308c\u3070\u3001\u5bff\u547d\u305d\u306e\u3082\u306e\u306f\u4e00\u822c\u306e\u65b9\u3068\u5927\u304d\u304f\u5909\u308f\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09:<\/strong> \u80a2\u306e\u77ed\u7e2e\u3084\u95a2\u7bc0\u306e\u53ef\u52d5\u57df\u5236\u9650\u306b\u3088\u308b\u8eab\u4f53\u7684\u306a\u4e0d\u81ea\u7531\u3055\u306f\u6b8b\u308a\u307e\u3059\u304c\u3001\u798f\u7949\u6a5f\u5668\u306e\u6d3b\u7528\u3084\u74b0\u5883\u8abf\u6574\u306b\u3088\u308a\u3001\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u4eba\u671f:<\/strong> \u9aa8\u306e\u7652\u5408\u306b\u4f34\u3046\u65e9\u671f\u306e\u5909\u5f62\u6027\u95a2\u7bc0\u75c7\uff08\u95a2\u7bc0\u306e\u75db\u307f\uff09\u304c\u51fa\u3084\u3059\u3044\u305f\u3081\u3001\u9577\u671f\u7684\u306a\u6574\u5f62\u5916\u79d1\u7684\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u91cd\u8981\u3067\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>Mesomelia-synostoses syndrome\uff08\u80a2\u4e2d\u9593\u90e8\u77ed\u7e2e\u30fb\u9aa8\u7652\u5408\u75c7\u5019\u7fa4\uff09\u306f\u3001\u8155\u3084\u811a\u306e\u4e2d\u9593\u306e\u9aa8\u304c\u77ed\u304f\u3001\u624b\u9996\u3084\u8db3\u9996\u306e\u5c0f\u3055\u306a\u9aa8\u304c\u3064\u306a\u304c\u3063\u3066\u751f\u307e\u308c\u3066\u304f\u308b\u3001\u975e\u5e38\u306b\u73cd\u3057\u3044\u9aa8\u306e\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8155\u304c\u77ed\u3044\u300d\u300c\u95a2\u7bc0\u304c\u52d5\u304b\u3057\u306b\u304f\u3044\u300d\u3068\u3044\u3063\u305f\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u306b\u52a0\u3048\u3066\u3001\u72ec\u7279\u306a\u9854\u7acb\u3061\u3084\u547c\u5438\u5668\u306e\u5f31\u3055\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f8\u756a\u67d3\u8272\u4f53\u306e\u5c0f\u3055\u306a\u6b20\u5931\u304c\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u304a\u308a\u3001\u73fe\u5728\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u6b63\u78ba\u306b\u8a3a\u65ad\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u3053\u308c\u307b\u3069\u307e\u3067\u306b\u60c5\u5831\u304c\u5c11\u306a\u3044\u75c5\u6c17\u3068\u5411\u304d\u5408\u3046\u3053\u3068\u306f\u5927\u5909\u306a\u4e0d\u5b89\u304b\u3068\u601d\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u6574\u5f62\u5916\u79d1\u3001\u5c0f\u5150\u79d1\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\u306a\u3069\u306e\u5c02\u9580\u5bb6\u304c\u30c1\u30fc\u30e0\u3092\u7d44\u3080\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u6301\u3063\u3066\u3044\u308b\u6a5f\u80fd\u3092\u6700\u5927\u9650\u306b\u6d3b\u304b\u3057\u3001\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u652f\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u3086\u3063\u304f\u308a\u3068\u3057\u305f\u6b69\u307f\u3067\u3042\u3063\u3066\u3082\u3001\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u3042\u308c\u3070\u3001\u304a\u5b50\u69d8\u306f\u81ea\u5206\u3089\u3057\u3044\u4eba\u751f\u3092\u5207\u308a\u62d3\u3044\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\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>Verloes, A., David, A., &amp; Pfeiffer, R. A.<\/strong> (1995). <em>Mesomelia-synostoses syndrome: a distinctive entity.<\/em> Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u672c\u75c7\u5019\u7fa4\u3092\u4e00\u3064\u306e\u72ec\u7acb\u3057\u305f\u75be\u60a3\u3068\u3057\u3066\u6700\u521d\u306b\u63d0\u5531\u3057\u305f\u6b74\u53f2\u7684\u8ad6\u6587\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Isidor, B., et al.<\/strong> (2010). <em>Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.<\/em> Human Mutation.\n<ul class=\"wp-block-list\">\n<li>\uff08MSS\u306e\u539f\u56e0\u304c8q13\u9818\u57df\u306e\u6b20\u5931\u3067\u3042\u308a\u3001SULF1\u907a\u4f1d\u5b50\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u4e16\u754c\u3067\u521d\u3081\u3066\u8a3c\u660e\u3057\u305f\u6700\u91cd\u8981\u8ad6\u6587\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Castori, M., et al.<\/strong> (2011). <em>The Mesomelia-synostoses syndrome (Verloes-David-Pfeiffer syndrome).<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u81e8\u5e8a\u75c7\u72b6\u306e\u591a\u69d8\u6027\u3068\u6700\u65b0\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u77e5\u898b\u3092\u307e\u3068\u3081\u305f\u5305\u62ec\u7684\u30ec\u30d3\u30e5\u30fc\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Mesomelia-synostoses syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u8a3a\u65ad\u3001\u7ba1\u7406\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u6a19\u6e96\u7684\u6307\u91dd\u3092\u7db2\u7f85\u3057\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>Mesomelia-synostoses syndrome (8q13 deletion)<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u306e\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u3054\u5bb6\u65cf\u5411\u3051\u306e\u308f\u304b\u308a\u3084\u3059\u3044\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>Mesomelia-synostoses syndrome (ORPHA:2499)<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u75be\u60a3\u306e\u56fd\u969b\u7684\u306a\u30dd\u30fc\u30bf\u30eb\u30b5\u30a4\u30c8\u306b\u3088\u308b\u6982\u8981\u60c5\u5831\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-17366","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\/17366","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\/17366\/revisions"}],"predecessor-version":[{"id":17368,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17366\/revisions\/17368"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17366"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}