{"id":122784,"date":"2026-01-15T09:50:33","date_gmt":"2026-01-15T00:50:33","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122784"},"modified":"2026-03-27T16:29:28","modified_gmt":"2026-03-27T07:29:28","slug":"cafdadd-syndrome-traf7-genetic-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cafdadd-syndrome-traf7-genetic-guide\/","title":{"rendered":"Cardiac, Facial, and Digital Anomalies with Developmental Delay"},"content":{"rendered":"\n<p>\u73fe\u4ee3\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u306e\u666e\u53ca\u306f\u3001\u3053\u308c\u307e\u3067\u300c\u539f\u56e0\u4e0d\u660e\u306e\u591a\u767a\u5947\u5f62\u75c7\u5019\u7fa4\u300d\u3068\u3055\u308c\u3066\u304d\u305f\u591a\u304f\u306e\u75be\u60a3\u306b\u5149\u3092\u5f53\u3066\u3066\u304d\u307e\u3057\u305f\u3002\u305d\u306e\u4e2d\u3067\u3082\u30012018\u5e74\u306b\u521d\u3081\u3066\u72ec\u7acb\u3057\u305f\u75be\u60a3\u6982\u5ff5\u3068\u3057\u3066\u63d0\u5531\u3055\u308c\u305fCardiac, Facial, and Digital Anomalies with Developmental Delay\uff08\u4ee5\u4e0b\u3001CAFDADD\uff09\u306f\u3001\u7d30\u80de\u5185\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u3092\u53f8\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>CAFDADD\u306f\u3001\u305d\u306e\u540d\u79f0\u304c\u793a\u3059\u901a\u308a\u3001\u5fc3\u81d3\u3001\u9854\u8c8c\u3001\u624b\u6307\u3001\u305d\u3057\u3066\u795e\u7d4c\u767a\u9054\u3068\u3044\u3046\u5e83\u7bc4\u56f2\u306b\u308f\u305f\u308b\u81e8\u5e8a\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002\u8a3a\u65ad\u304c\u4e0b\u3055\u308c\u305f\u3070\u304b\u308a\u306e\u3054\u5bb6\u65cf\u3084\u3001\u3053\u306e\u65b0\u3057\u3044\u75be\u60a3\u5358\u4f4d\u306b\u3064\u3044\u3066\u7406\u89e3\u3092\u6df1\u3081\u3088\u3046\u3068\u3059\u308b\u5c02\u9580\u5bb6\u306b\u3068\u3063\u3066\u3001\u6700\u65b0\u306e\u77e5\u898b\u3092\u7d71\u5408\u3057\u305f\u60c5\u5831\u306f\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u306f\u3001CAFDADD\u306e\u75c5\u7406\u5b66\u7684\u6839\u62e0\u3067\u3042\u308bTRAF7\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u304b\u3089\u3001\u81e8\u5e8a\u7684\u306a\u8868\u73fe\u578b\u3001\u305d\u3057\u3066\u73fe\u5728\u306e\u6cbb\u7642\u7684\u30a2\u30d7\u30ed\u30fc\u30c1\u306b\u81f3\u308b\u307e\u3067\u3001\u5c02\u9580\u7684\u306a\u8996\u70b9\u3067\u8a73\u7d30\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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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 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cafdadd-syndrome-traf7-genetic-guide\/#TRAF7%E3%82%BF%E3%83%B3%E3%83%91%E3%82%AF%E8%B3%AA%E3%81%AE%E5%A4%9A%E6%A9%9F%E8%83%BD%E6%80%A7\" >TRAF7\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u591a\u6a5f\u80fd\u6027<\/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\/cafdadd-syndrome-traf7-genetic-guide\/#%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB%E4%BC%9D%E9%81%94%E3%81%AE%E7%95%B0%E5%B8%B8%E3%81%A8%E7%99%BA%E7%97%87%E6%A9%9F%E5%BA%8F\" >\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306e\u7570\u5e38\u3068\u767a\u75c7\u6a5f\u5e8f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cafdadd-syndrome-traf7-genetic-guide\/#%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%9Ade_novo%E5%A4%89%E7%95%B0%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >\u907a\u4f1d\u5f62\u5f0f\uff1ade 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cafdadd-syndrome-traf7-genetic-guide\/#%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\" >\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Features\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cafdadd-syndrome-traf7-genetic-guide\/#%E5%9B%9B%E8%82%A2%E3%83%BB%E6%8C%87%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88Digital_Anomalies%EF%BC%89\" >\u56db\u80a2\u30fb\u6307\u306e\u7570\u5e38\uff08Digital Anomalies\uff09<\/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\/cafdadd-syndrome-traf7-genetic-guide\/#%E7%99%BA%E9%81%94%E9%81%85%E6%BB%9E%E3%81%A8%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%88Developmental_Delay%EF%BC%89\" >\u767a\u9054\u9045\u6ede\u3068\u795e\u7d4c\u5b66\u7684\u7279\u5fb4\uff08Developmental Delay\uff09<\/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\/cafdadd-syndrome-traf7-genetic-guide\/#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%EF%BC%9A%E4%B8%8D%E7%A2%BA%E5%AE%9F%E6%80%A7%E3%82%92%E6%8E%92%E9%99%A4%E3%81%99%E3%82%8B%E3%81%9F%E3%82%81%E3%81%AB\" >3. \u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u3068\u9451\u5225\uff1a\u4e0d\u78ba\u5b9f\u6027\u3092\u6392\u9664\u3059\u308b\u305f\u3081\u306b<\/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\/cafdadd-syndrome-traf7-genetic-guide\/#%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%EF%BC%88%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%EF%BC%89\" >\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09<\/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\/cafdadd-syndrome-traf7-genetic-guide\/#%E8%87%A8%E5%BA%8A%E7%9A%84%E8%A9%95%E4%BE%A1%E3%81%AE%E3%82%B9%E3%83%86%E3%83%83%E3%83%97\" >\u81e8\u5e8a\u7684\u8a55\u4fa1\u306e\u30b9\u30c6\u30c3\u30d7<\/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\/cafdadd-syndrome-traf7-genetic-guide\/#4_%E6%B2%BB%E7%99%82%E3%81%A8%E5%8C%85%E6%8B%AC%E7%9A%84%E7%AE%A1%E7%90%86%EF%BC%9A%E5%A4%9A%E8%81%B7%E7%A8%AE%E9%80%A3%E6%90%BA%EF%BC%88Multidisciplinary_Team%EF%BC%89%E3%81%AB%E3%82%88%E3%82%8B%E4%BB%8B%E5%85%A5\" >4. \u6cbb\u7642\u3068\u5305\u62ec\u7684\u7ba1\u7406\uff1a\u591a\u8077\u7a2e\u9023\u643a\uff08Multidisciplinary Team\uff09\u306b\u3088\u308b\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-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cafdadd-syndrome-traf7-genetic-guide\/#%E9%A0%98%E5%9F%9F%E5%88%A5%E3%81%AE%E7%AE%A1%E7%90%86%E6%88%A6%E7%95%A5\" >\u9818\u57df\u5225\u306e\u7ba1\u7406\u6226\u7565<\/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\/cafdadd-syndrome-traf7-genetic-guide\/#%E7%99%BA%E9%81%94%E3%83%BB%E6%95%99%E8%82%B2%E7%9A%84%E6%94%AF%E6%8F%B4\" >\u767a\u9054\u30fb\u6559\u80b2\u7684\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-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cafdadd-syndrome-traf7-genetic-guide\/#5_%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%E5%8B%95%E5%90%91%E3%81%A8%E5%B0%86%E6%9D%A5%E3%81%AE%E5%B1%95%E6%9C%9B\" >5. \u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\u3068\u5c06\u6765\u306e\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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cafdadd-syndrome-traf7-genetic-guide\/#%E7%A0%94%E7%A9%B6%E3%81%AE%E6%9C%80%E5%89%8D%E7%B7%9A\" >\u7814\u7a76\u306e\u6700\u524d\u7dda<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cafdadd-syndrome-traf7-genetic-guide\/#%E7%B5%90%E8%AB%96%EF%BC%9A%E7%9F%A5%E8%AD%98%E3%81%AE%E5%85%B1%E6%9C%89%E3%81%8C%E6%9C%AA%E6%9D%A5%E3%82%92%E5%89%B5%E3%82%8B\" >\u7d50\u8ad6\uff1a\u77e5\u8b58\u306e\u5171\u6709\u304c\u672a\u6765\u3092\u5275\u308b<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%88%86%E5%AD%90%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%EF%BC%9ATRAF7%E9%81%BA%E4%BC%9D%E5%AD%90%E5%A4%89%E7%95%B0%E3%81%A8%E7%B4%B0%E8%83%9E%E5%86%85%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB%E3%81%AE%E6%AD%AA%E3%81%BF\"><\/span><strong>1. \u5206\u5b50\u907a\u4f1d\u5b66\u7684\u80cc\u666f\uff1aTRAF7\u907a\u4f1d\u5b50\u5909\u7570\u3068\u7d30\u80de\u5185\u30b7\u30b0\u30ca\u30eb\u306e\u6b6a\u307f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CAFDADD\u306e\u672c\u614b\u306f\u3001\u7b2c16\u67d3\u8272\u4f53\uff0816p13.3\uff09\u306b\u4f4d\u7f6e\u3059\u308b<strong>TRAF7\u907a\u4f1d\u5b50<\/strong>\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u578b\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u3069\u306e\u3088\u3046\u306b\u3057\u3066\u5168\u8eab\u306e\u5f62\u614b\u7570\u5e38\u3092\u62db\u304f\u306e\u304b\u3001\u305d\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u7d10\u89e3\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"TRAF7%E3%82%BF%E3%83%B3%E3%83%91%E3%82%AF%E8%B3%AA%E3%81%AE%E5%A4%9A%E6%A9%9F%E8%83%BD%E6%80%A7\"><\/span><strong>TRAF7\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u591a\u6a5f\u80fd\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>TRAF7\uff08TNF receptor-associated factor 7\uff09\u306f\u3001\u7d30\u80de\u5185\u306e\u69d8\u3005\u306a\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u306b\u95a2\u4e0e\u3059\u308b\u591a\u6a5f\u80fd\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3059\u3002\u7279\u306b\u4ee5\u4e0b\u306e3\u3064\u306e\u91cd\u8981\u306a\u30c9\u30e1\u30a4\u30f3\uff08\u9818\u57df\uff09\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>RING\u30d5\u30a3\u30f3\u30ac\u30fc\u30c9\u30e1\u30a4\u30f3\uff1a<\/strong> \u30e6\u30d3\u30ad\u30c1\u30f3\u30ea\u30ac\u30fc\u30bc\u6d3b\u6027\u3092\u6301\u3061\u3001\u4ed6\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5206\u89e3\u3084\u6d3b\u6027\u5316\u3092\u5236\u5fa1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b8\u30f3\u30af\u30d5\u30a3\u30f3\u30ac\u30fc\u30c9\u30e1\u30a4\u30f3\uff1a<\/strong> DNA\u7d50\u5408\u3084\u30bf\u30f3\u30d1\u30af\u8cea\u9593\u76f8\u4e92\u4f5c\u7528\u306b\u95a2\u308f\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>WD40\u30ea\u30d4\u30fc\u30c8\u30c9\u30e1\u30a4\u30f3\uff1a<\/strong> \u30bf\u30f3\u30d1\u30af\u8cea\u9593\u306e\u8db3\u5834\uff08\u30b9\u30ad\u30e3\u30d5\u30a9\u30fc\u30eb\u30c9\uff09\u3068\u3057\u3066\u6a5f\u80fd\u3057\u307e\u3059\u3002<strong>CAFDADD\u3067\u898b\u3089\u308c\u308b\u5909\u7570\u306e\u591a\u304f\u306f\u3001\u3053\u306eWD40\u30ea\u30d4\u30fc\u30c8\u9818\u57df\u306b\u96c6\u4e2d\u3057\u3066\u3044\u307e\u3059\u3002<\/strong><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB%E4%BC%9D%E9%81%94%E3%81%AE%E7%95%B0%E5%B8%B8%E3%81%A8%E7%99%BA%E7%97%87%E6%A9%9F%E5%BA%8F\"><\/span><strong>\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306e\u7570\u5e38\u3068\u767a\u75c7\u6a5f\u5e8f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>TRAF7\u306f\u3001NF-\u03baB\u7d4c\u8def\u3001MAPK\u7d4c\u8def\u3001\u304a\u3088\u3073\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff08\u7d30\u80de\u6b7b\uff09\u306e\u5236\u5fa1\u306b\u6df1\u304f\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u7d4c\u8def\u306f\u80ce\u5150\u671f\u306b\u304a\u3051\u308b\u81d3\u5668\u5f62\u6210\u3084\u7d44\u7e54\u306e\u5206\u5316\u306b\u304a\u3044\u3066\u3001\u3044\u308f\u3070\u300c\u6307\u63ee\u8005\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002 WD40\u30ea\u30d4\u30fc\u30c8\u30c9\u30e1\u30a4\u30f3\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001TRAF7\u304c\u9069\u5207\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3068\u7d50\u5408\u3067\u304d\u306a\u304f\u306a\u308a\u3001\u30b7\u30b0\u30ca\u30eb\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u307e\u3059\u3002\u3053\u308c\u304c\u3001\u5fc3\u81d3\u306e\u58c1\u306e\u5f62\u6210\u4e0d\u5168\u3001\u9854\u9762\u306e\u9aa8\u683c\u5f62\u6210\u306e\u9045\u308c\u3001\u6307\u306e\u5206\u5316\u7570\u5e38\u3001\u305d\u3057\u3066\u8133\u306e\u795e\u7d4c\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u69cb\u7bc9\u306e\u969c\u5bb3\u3078\u3068\u7e4b\u304c\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%9Ade_novo%E5%A4%89%E7%95%B0%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>\u907a\u4f1d\u5f62\u5f0f\uff1ade novo\u5909\u7570\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CAFDADD\u306e\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u3001de novo\uff08\u7a81\u7136\u5909\u7570\uff09\u306b\u3088\u308b\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u4e21\u89aa\u306f\u5909\u7570\u3092\u6301\u3063\u3066\u304a\u3089\u305a\u3001\u53d7\u7cbe\u5375\u306e\u6bb5\u968e\u3067\u521d\u3081\u3066\u767a\u751f\u3057\u305f\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u5bb6\u65cf\u6b74\u304c\u306a\u3044\u5834\u5408\u304c\u591a\u304f\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u306a\u3069\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u8a3a\u65ad\u306e\u6c7a\u5b9a\u6253\u3068\u306a\u308a\u307e\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%E8%A1%A8%E7%8F%BE%E5%9E%8B%EF%BC%9ACAFDADD%E3%82%92%E7%89%B9%E5%BE%B4%E3%81%A5%E3%81%91%E3%82%8B4%E3%81%A4%E3%81%AE%E6%9F%B1\"><\/span><strong>2. \u81e8\u5e8a\u7684\u8868\u73fe\u578b\uff1aCAFDADD\u3092\u7279\u5fb4\u3065\u3051\u308b4\u3064\u306e\u67f1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u75be\u60a3\u540d\u306b\u542b\u307e\u308c\u308b\u300c\u5fc3\u81d3\uff08Cardiac\uff09\u300d\u300c\u9854\u8c8c\uff08Facial\uff09\u300d\u300c\u6307\uff08Digital\uff09\u300d\u300c\u767a\u9054\u9045\u6ede\uff08Developmental Delay\uff09\u300d\u306e\u5404\u9805\u76ee\u306b\u3064\u3044\u3066\u3001\u5177\u4f53\u7684\u306a\u75c7\u72b6\u3092\u89e3\u6790\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BF%83%E8%A1%80%E7%AE%A1%E7%B3%BB%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88Cardiac_Anomalies%EF%BC%89\"><\/span><strong>\u5fc3\u8840\u7ba1\u7cfb\u306e\u7570\u5e38\uff08Cardiac Anomalies\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7d04\u534a\u6570\u4ee5\u4e0a\u306e\u60a3\u8005\u306b\u5fc3\u69cb\u9020\u7570\u5e38\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e2d\u9694\u6b20\u640d\uff1a<\/strong> \u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3084\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u304c\u6700\u3082\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f01\u819c\u75c7\uff1a<\/strong> \u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff08PDA\uff09\u3084\u80ba\u52d5\u8108\u5f01\u72ed\u7a84\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u7684\u5f71\u97ff\uff1a<\/strong> \u65e9\u671f\u306e\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u306b\u3088\u308b\u8a55\u4fa1\u304c\u5fc5\u9808\u3067\u3042\u308a\u3001\u75c7\u4f8b\u306b\u3088\u3063\u3066\u306f\u4e73\u5e7c\u5150\u671f\u306e\u5916\u79d1\u7684\u4ecb\u5165\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\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%E9%A1%94%E8%B2%8C%EF%BC%88Facial_Features%EF%BC%89\"><\/span><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Features\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CAFDADD\u306b\u306f\u3001\u81e8\u5e8a\u907a\u4f1d\u5b66\u7684\u306b\u8a8d\u8b58\u53ef\u80fd\u306a\u7279\u7570\u7684\u306a\u9854\u8c8c\u7684\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u77bc\u88c2\u659c\u4e0b\uff1a<\/strong> \u76ee\u5c3b\u304c\u4e0b\u304c\u3063\u305f\u5916\u89b3\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u4e0b\u5782\uff1a<\/strong> \u4e0a\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u304a\u308a\u3001\u8996\u91ce\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e83\u3044\u7709\u9593\u3068\u5e73\u5766\u306a\u9f3b\u6881\uff1a<\/strong> \u9f3b\u306e\u4ed8\u3051\u6839\u304c\u4f4e\u304f\u3001\u76ee\u304c\u96e2\u308c\u3066\u898b\u3048\u308b\uff08\u9694\u96e2\u75c7\uff09\u50be\u5411\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u4f4d\u4ed8\u7740\u8033\uff1a<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u901a\u5e38\u3088\u308a\u4f4e\u304f\u3001\u5f8c\u65b9\u306b\u56de\u8ee2\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77ed\u3044\u9838\u90e8\uff1a<\/strong> \u9996\u304c\u77ed\u304f\u3001\u7ffc\u72b6\u9838\uff08\u76ae\u819a\u306e\u3086\u3068\u308a\uff09\u3092\u4f34\u3046\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=\"%E5%9B%9B%E8%82%A2%E3%83%BB%E6%8C%87%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88Digital_Anomalies%EF%BC%89\"><\/span><strong>\u56db\u80a2\u30fb\u6307\u306e\u7570\u5e38\uff08Digital Anomalies\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u624b\u6307\u304a\u3088\u3073\u8db3\u6307\u306e\u5f62\u614b\u7684\u7279\u5fb4\u306f\u3001\u672c\u75c7\u3092\u7591\u3046\u91cd\u8981\u306a\u6307\u6a19\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77ed\u6307\u75c7\uff08Brachydactyly\uff09\uff1a<\/strong> \u6307\u304c\u5168\u4f53\u7684\u306b\u77ed\u3044\u3002<\/li>\n\n\n\n<li><strong>\u659c\u6307\uff08Clinodactyly\uff09\uff1a<\/strong> \u7279\u306b\u5c0f\u6307\u304c\u5185\u5074\u306b\u66f2\u304c\u3063\u3066\u3044\u308b\u72b6\u614b\u3002<\/li>\n\n\n\n<li><strong>\u5408\u6307\u75c7\uff08Syndactyly\uff09\uff1a<\/strong> \u96a3\u308a\u5408\u3046\u6307\u304c\u7652\u5408\u3057\u3066\u3044\u308b\u3001\u3042\u308b\u3044\u306f\u76ae\u819a\u3067\u7e4b\u304c\u3063\u3066\u3044\u308b\u72b6\u614b\u3002<\/li>\n\n\n\n<li><strong>\u5e45\u5e83\u3044\u6bcd\u6307\uff1a<\/strong> \u89aa\u6307\u306e\u672b\u7bc0\u9aa8\u304c\u5e45\u5e83\u304f\u3001\u6241\u5e73\u306a\u5f62\u72b6\u3092\u5448\u3059\u308b\u3053\u3068\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%99%BA%E9%81%94%E9%81%85%E6%BB%9E%E3%81%A8%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%88Developmental_Delay%EF%BC%89\"><\/span><strong>\u767a\u9054\u9045\u6ede\u3068\u795e\u7d4c\u5b66\u7684\u7279\u5fb4\uff08Developmental Delay\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u795e\u7d4c\u767a\u9054\u306e\u8ab2\u984c\u306f\u3001\u9577\u671f\u7684\u306a\u30b1\u30a2\u306b\u304a\u3044\u3066\u6700\u3082\u4e2d\u5fc3\u7684\u306a\u554f\u984c\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u822c\u7684\u306a\u767a\u9054\u9045\u6ede\uff1a<\/strong> \u904b\u52d5\u767a\u9054\uff08\u9996\u5ea7\u308a\u3001\u6b69\u884c\uff09\u304a\u3088\u3073\u8a00\u8a9e\u767a\u9054\u306e\u4e21\u9762\u3067\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff1a<\/strong> \u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\uff1a<\/strong> \u4e73\u5e7c\u5150\u671f\u306b\u300c\u4f53\u304c\u67d4\u3089\u304b\u3044\u300d\u3068\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u3053\u308c\u304c\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306e\u4e00\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027\uff1a<\/strong> <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08ASD\uff09\u7684\u306a\u50be\u5411\u3084\u3001\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u7684\u306a\u7279\u5fb4\u3092\u793a\u3059\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A8%BA%E6%96%AD%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%E3%81%A8%E9%91%91%E5%88%A5%EF%BC%9A%E4%B8%8D%E7%A2%BA%E5%AE%9F%E6%80%A7%E3%82%92%E6%8E%92%E9%99%A4%E3%81%99%E3%82%8B%E3%81%9F%E3%82%81%E3%81%AB\"><\/span><strong>3. \u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u3068\u9451\u5225\uff1a\u4e0d\u78ba\u5b9f\u6027\u3092\u6392\u9664\u3059\u308b\u305f\u3081\u306b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CAFDADD\u306f\u4ed6\u306e\u591a\u304f\u306e\u591a\u767a\u5947\u5f62\u75c7\u5019\u7fa4\uff08\u4f8b\uff1a\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u3001\u30ab\u30d6\u30ad\u75c7\u5019\u7fa4\u306a\u3069\uff09\u3068\u75c7\u72b6\u304c\u91cd\u8907\u3059\u308b\u305f\u3081\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u307f\u3067\u306e\u78ba\u5b9a\u8a3a\u65ad\u306f\u56f0\u96e3\u3092\u6975\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%EF%BC%88%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%EF%BC%89\"><\/span><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001\u552f\u4e00\u306e\u78ba\u5b9a\u8a3a\u65ad\u6cd5\u306f<strong>TRAF7\u907a\u4f1d\u5b50\u306e\u5909\u7570\u540c\u5b9a<\/strong>\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\uff1a<\/strong> \u81e8\u5e8a\u7684\u306b\u7591\u308f\u3057\u3044\u5834\u5408\u3001\u307e\u305a\u884c\u308f\u308c\u308b\u3079\u304d\u691c\u67fb\u3067\u3059\u3002\u4ed6\u306e\u985e\u4f3c\u75be\u60a3\u3068\u306e\u5dee\u5225\u5316\u304c\u540c\u6642\u306b\u884c\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b5\u30f3\u30ac\u30fc\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff1a<\/strong> \u7279\u5b9a\u306e\u65e2\u77e5\u5909\u7570\uff08\u7279\u306bWD40\u30c9\u30e1\u30a4\u30f3\u5185\u306e\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u5909\u7570\uff09\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E7%9A%84%E8%A9%95%E4%BE%A1%E3%81%AE%E3%82%B9%E3%83%86%E3%83%83%E3%83%97\"><\/span><strong>\u81e8\u5e8a\u7684\u8a55\u4fa1\u306e\u30b9\u30c6\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\uff1a<\/strong> \u5fc3\u6b20\u640d\u306e\u6709\u7121\u3068\u8840\u884c\u52d5\u614b\u306e\u8a55\u4fa1\u3002<\/li>\n\n\n\n<li><strong>\u8133MRI\uff1a<\/strong> \u8133\u6881\u306e\u4f4e\u5f62\u6210\u3084\u8133\u5ba4\u62e1\u5927\u306a\u3069\u3001\u8133\u306e\u69cb\u9020\u7684\u7570\u5e38\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\u7684\u8a55\u4fa1\uff1a<\/strong> \u773c\u77bc\u4e0b\u5782\u306b\u3088\u308b\u8996\u529b\u767a\u9054\u963b\u5bb3\u3084\u3001\u4e2d\u8033\u708e\u30fb\u96e3\u8074\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\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\/24273313_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121555\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%B2%BB%E7%99%82%E3%81%A8%E5%8C%85%E6%8B%AC%E7%9A%84%E7%AE%A1%E7%90%86%EF%BC%9A%E5%A4%9A%E8%81%B7%E7%A8%AE%E9%80%A3%E6%90%BA%EF%BC%88Multidisciplinary_Team%EF%BC%89%E3%81%AB%E3%82%88%E3%82%8B%E4%BB%8B%E5%85%A5\"><\/span><strong>4. \u6cbb\u7642\u3068\u5305\u62ec\u7684\u7ba1\u7406\uff1a\u591a\u8077\u7a2e\u9023\u643a\uff08Multidisciplinary Team\uff09\u306b\u3088\u308b\u4ecb\u5165<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u3001CAFDADD\u306e\u6839\u672c\u539f\u56e0\u3067\u3042\u308b\u907a\u4f1d\u5b50\u5909\u7570\u3092\u4fee\u5fa9\u3059\u308b\u6cbb\u7642\uff08\u907a\u4f1d\u5b50\u6cbb\u7642\uff09\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u5404\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u65e9\u671f\u306e\u5bfe\u75c7\u7642\u6cd5\u3068\u7d99\u7d9a\u7684\u306a\u7642\u80b2\u304c\u3001\u60a3\u8005\u306eQOL\u3092\u5287\u7684\u306b\u6539\u5584\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A0%98%E5%9F%9F%E5%88%A5%E3%81%AE%E7%AE%A1%E7%90%86%E6%88%A6%E7%95%A5\"><\/span><strong>\u9818\u57df\u5225\u306e\u7ba1\u7406\u6226\u7565<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5faa\u74b0\u5668\u79d1\uff1a<\/strong> \u5fc3\u6b20\u640d\u306b\u5bfe\u3059\u308b\u5185\u79d1\u7684\u7ba1\u7406\u304a\u3088\u3073\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u5916\u79d1\u7684\u4fee\u5fa9\u3002<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\uff1a<\/strong> \u624b\u6307\u306e\u6a5f\u80fd\u969c\u5bb3\u306b\u5bfe\u3059\u308b\u4f5c\u696d\u7642\u6cd5\u3001\u3042\u308b\u3044\u306f\u91cd\u5ea6\u306e\u5408\u6307\u75c7\u306b\u5bfe\u3059\u308b\u5f62\u6210\u5916\u79d1\u7684\u624b\u8853\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3059\u308b\u904b\u52d5\u7642\u6cd5\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong> \u69cb\u97f3\u969c\u5bb3\u3084\u8a00\u8a9e\u7406\u89e3\u306b\u5bfe\u3059\u308b\u652f\u63f4\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1\uff1a<\/strong> \u773c\u77bc\u4e0b\u5782\u304c\u8996\u529b\u767a\u9054\u3092\u59a8\u3052\u308b\u5834\u5408\u3001\u307e\u3076\u305f\u3092\u540a\u308a\u4e0a\u3052\u308b\u624b\u8853\uff08\u773c\u77bc\u4e0b\u5782\u624b\u8853\uff09\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E3%83%BB%E6%95%99%E8%82%B2%E7%9A%84%E6%94%AF%E6%8F%B4\"><\/span><strong>\u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u500b\u5225\u6559\u80b2\u8a08\u753b\uff08IEP\uff09\u306e\u7b56\u5b9a\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u8996\u899a\u7684\u60c5\u5831\u306e\u51e6\u7406\u80fd\u529b\u3084\u3001\u7d30\u304b\u3044\u624b\u5148\u306e\u4f5c\u696d\uff08\u5fae\u7d30\u904b\u52d5\uff09\u306e\u8ab2\u984c\u3092\u8003\u616e\u3057\u305f\u5b66\u7fd2\u74b0\u5883\u306e\u6574\u5099\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%E5%8B%95%E5%90%91%E3%81%A8%E5%B0%86%E6%9D%A5%E3%81%AE%E5%B1%95%E6%9C%9B\"><\/span><strong>5. \u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\u3068\u5c06\u6765\u306e\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>TRAF7\u306fCAFDADD\u306e\u539f\u56e0\u3067\u3042\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u6210\u4eba\u671f\u306b\u767a\u751f\u3059\u308b\u9ac4\u819c\u816b\uff08Meningioma\uff09\u306e\u4f53\u7d30\u80de\u5909\u7570\u3068\u3057\u3066\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3053\u3068\u306f\u3001TRAF7\u304c\u7d30\u80de\u306e\u5897\u6b96\u5236\u5fa1\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u306a\u300c\u30d6\u30ec\u30fc\u30ad\u300d\u306e\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A0%94%E7%A9%B6%E3%81%AE%E6%9C%80%E5%89%8D%E7%B7%9A\"><\/span><strong>\u7814\u7a76\u306e\u6700\u524d\u7dda<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b7\u30b0\u30ca\u30eb\u8abf\u6574\u5264\u306e\u63a2\u7d22\uff1a<\/strong> TRAF7\u5909\u7570\u306b\u3088\u3063\u3066\u904e\u5270\u3001\u3042\u308b\u3044\u306f\u904e\u5c11\u306b\u306a\u3063\u305f\u30b7\u30b0\u30ca\u30eb\uff08NF-\u03baB\u3084MAPK\uff09\u3092\u3001\u65e2\u5b58\u306e\u85ac\u5264\u3084\u65b0\u3057\u3044\u5316\u5408\u7269\u3067\u8abf\u6574\u3067\u304d\u306a\u3044\u304b\u3068\u3044\u3046\u7814\u7a76\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u7136\u6b74\u7814\u7a76\uff1a<\/strong> CAFDADD\u306f\u767a\u898b\u3055\u308c\u3066\u65e5\u304c\u6d45\u3044\u305f\u3081\u3001\u6210\u4eba\u671f\u306e\u4e88\u5f8c\u3084\u5408\u4f75\u75c7\u306b\u3064\u3044\u3066\u306e\u30c7\u30fc\u30bf\u84c4\u7a4d\u304c\u4e16\u754c\u898f\u6a21\u3067\u884c\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96%EF%BC%9A%E7%9F%A5%E8%AD%98%E3%81%AE%E5%85%B1%E6%9C%89%E3%81%8C%E6%9C%AA%E6%9D%A5%E3%82%92%E5%89%B5%E3%82%8B\"><\/span><strong>\u7d50\u8ad6\uff1a\u77e5\u8b58\u306e\u5171\u6709\u304c\u672a\u6765\u3092\u5275\u308b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Cardiac, Facial, and Digital Anomalies with Developmental Delay\uff08CAFDADD\uff09\u306f\u3001TRAF7\u3068\u3044\u3046\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u5168\u8eab\u306b\u6ce2\u53ca\u3059\u308b\u3001\u8907\u96d1\u306a\u75c7\u5019\u7fa4\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u305d\u306e\u6b63\u4f53\u304c\u89e3\u660e\u3055\u308c\u305f\u3053\u3068\u3067\u3001\u79c1\u305f\u3061\u306f\u300c\u898b\u5b88\u308b\u300d\u3060\u3051\u3067\u306a\u304f\u300c\u5148\u624b\u3092\u6253\u3064\u300d\u533b\u7642\u3092\u63d0\u4f9b\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u306e\u5fc3\u81d3\u30c1\u30a7\u30c3\u30af\u3001\u9069\u5207\u306a\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3001\u305d\u3057\u3066\u500b\u3005\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u6559\u80b2\u3002\u3053\u308c\u3089\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001CAFDADD\u3068\u5171\u306b\u751f\u304d\u308b\u5b50\u4f9b\u305f\u3061\u306f\u3001\u81ea\u5206\u305f\u3061\u306e\u30da\u30fc\u30b9\u3067\u7740\u5b9f\u306b\u4e16\u754c\u3092\u5e83\u3052\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u5f93\u4e8b\u8005\u3068\u3054\u5bb6\u65cf\u304c\u3053\u306e\u75be\u60a3\u306b\u5bfe\u3059\u308b\u6df1\u3044\u7406\u89e3\u3092\u5171\u6709\u3059\u308b\u3053\u3068\u3002\u305d\u308c\u304c\u3001CAFDADD\u3068\u3044\u3046\u96e3\u984c\u306b\u5bfe\u3059\u308b\u3001\u73fe\u6642\u70b9\u3067\u6700\u3082\u5f37\u529b\u306a\u6cbb\u7642\u6cd5\u3068\u8a00\u3048\u308b\u306e\u304b\u3082\u3057\u308c\u307e\u305b\u3093\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":"\u73fe\u4ee3\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cafdadd-syndrome-traf7-genetic-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":121563,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122784","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\/122784","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=122784"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122784\/revisions"}],"predecessor-version":[{"id":126209,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122784\/revisions\/126209"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121563"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122784"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122784"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122784"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}