{"id":122823,"date":"2026-01-15T10:21:28","date_gmt":"2026-01-15T01:21:28","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122823"},"modified":"2026-03-27T16:43:51","modified_gmt":"2026-03-27T07:43:51","slug":"child-syndrome-nscdl-genetics-clinical-review","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/child-syndrome-nscdl-genetics-clinical-review\/","title":{"rendered":"CHILD syndrome"},"content":{"rendered":"\n<p>CHILD\u75c7\u5019\u7fa4\uff08Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects\uff09\u306f\u3001\u305d\u306e\u540d\u306e\u901a\u308a\u300c\u5148\u5929\u6027\u504f\u5074\u5f62\u6210\u4e0d\u5168\u300d\u300c\u9b5a\u9c57\u766c\u69d8\u6bcd\u6591\u300d\u300c\u80a2\u4f53\u6b20\u640d\u300d\u3092\u4e09\u4e3b\u5fb4\u3068\u3059\u308b\u3001\u6975\u3081\u3066\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u30021980\u5e74\u306bHapple\u3089\u306b\u3088\u3063\u3066\u547d\u540d\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u76ae\u75b9\u3084\u9aa8\u683c\u7570\u5e38\u304c\u300c\u8eab\u4f53\u306e\u7247\u5074\uff08\u53f3\u5074\u307e\u305f\u306f\u5de6\u5074\uff09\u300d\u306b\u53b3\u5bc6\u306b\u504f\u3063\u3066\u73fe\u308c\u308b\u70b9\u306b\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u7279\u7570\u306a\u73fe\u8c61\u306f\u3001\u907a\u4f1d\u5b50\u5909\u7570\u3068X\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u6027\u5316\uff08\u30e9\u30a4\u30aa\u30cb\u30bc\u30fc\u30b7\u30e7\u30f3\uff09\u3068\u3044\u3046\u8907\u96d1\u306a\u751f\u7269\u5b66\u7684\u30d7\u30ed\u30bb\u30b9\u3092\u53cd\u6620\u3057\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001CHILD\u75c7\u5019\u7fa4\u306e\u75c5\u614b\u304b\u3089\u6700\u65b0\u306e\u6cbb\u7642\u6226\u7565\u307e\u3067\u3092\u6df1\u6398\u308a\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 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/child-syndrome-nscdl-genetics-clinical-review\/#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%9A%E3%82%B3%E3%83%AC%E3%82%B9%E3%83%86%E3%83%AD%E3%83%BC%E3%83%AB%E5%90%88%E6%88%90%E7%B5%8C%E8%B7%AF%E3%81%AE%E7%A0%B4%E7%B6%BB\" >1. \u5206\u5b50\u907a\u4f1d\u5b66\u7684\u80cc\u666f\uff1a\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u5408\u6210\u7d4c\u8def\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\/child-syndrome-nscdl-genetics-clinical-review\/#NSDHL%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\" >NSDHL\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/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\/child-syndrome-nscdl-genetics-clinical-review\/#%E3%81%AA%E3%81%9C%E3%80%8C%E7%89%87%E5%81%B4%E3%80%8D%E3%81%AA%E3%81%AE%E3%81%8B%EF%BC%9F\" >\u306a\u305c\u300c\u7247\u5074\u300d\u306a\u306e\u304b\uff1f<\/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\/child-syndrome-nscdl-genetics-clinical-review\/#2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9A%E4%B8%89%E4%B8%BB%E5%BE%B4%E3%81%A8%E9%9A%8F%E4%BC%B4%E7%97%87%E7%8A%B6\" >2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u4e09\u4e3b\u5fb4\u3068\u968f\u4f34\u75c7\u72b6<\/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\/child-syndrome-nscdl-genetics-clinical-review\/#%E2%91%A0_%E9%AD%9A%E9%B1%97%E7%99%AC%E6%A7%98%E6%AF%8D%E6%96%91%EF%BC%88CHILD_Nevus%EF%BC%89\" >\u2460 \u9b5a\u9c57\u766c\u69d8\u6bcd\u6591\uff08CHILD Nevus\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/child-syndrome-nscdl-genetics-clinical-review\/#%E2%91%A1_%E5%85%88%E5%A4%A9%E6%80%A7%E5%81%8F%E5%81%B4%E5%BD%A2%E6%88%90%E4%B8%8D%E5%85%A8%EF%BC%88Hemidysplasia%EF%BC%89\" >\u2461 \u5148\u5929\u6027\u504f\u5074\u5f62\u6210\u4e0d\u5168\uff08Hemidysplasia\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/child-syndrome-nscdl-genetics-clinical-review\/#%E2%91%A2_%E8%82%A2%E4%BD%93%E6%AC%A0%E6%90%8D%EF%BC%88Limb_Defects%EF%BC%89\" >\u2462 \u80a2\u4f53\u6b20\u640d\uff08Limb Defects\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/child-syndrome-nscdl-genetics-clinical-review\/#3_%E8%A8%BA%E6%96%AD%E3%81%A8%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%EF%BC%9A%E7%B2%BE%E5%AF%86%E3%81%AA%E8%A9%95%E4%BE%A1%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >3. \u8a3a\u65ad\u3068\u9451\u5225\u8a3a\u65ad\uff1a\u7cbe\u5bc6\u306a\u8a55\u4fa1\u306e\u91cd\u8981\u6027<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/child-syndrome-nscdl-genetics-clinical-review\/#%E8%A8%BA%E6%96%AD%E3%81%AE%E6%89%8B%E9%A0%86\" >\u8a3a\u65ad\u306e\u624b\u9806<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/child-syndrome-nscdl-genetics-clinical-review\/#%E9%91%91%E5%88%A5%E3%81%99%E3%81%B9%E3%81%8D%E7%96%BE%E6%82%A3\" >\u9451\u5225\u3059\u3079\u304d\u75be\u60a3<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/child-syndrome-nscdl-genetics-clinical-review\/#4_%E6%B2%BB%E7%99%82%E3%81%A8%E6%9C%80%E6%96%B0%E3%81%AE%E7%AE%A1%E7%90%86%E6%88%A6%E7%95%A5%EF%BC%9A%E7%97%85%E6%85%8B%E3%81%AB%E5%9F%BA%E3%81%A5%E3%81%8F%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\" >4. \u6cbb\u7642\u3068\u6700\u65b0\u306e\u7ba1\u7406\u6226\u7565\uff1a\u75c5\u614b\u306b\u57fa\u3065\u304f\u30a2\u30d7\u30ed\u30fc\u30c1<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/child-syndrome-nscdl-genetics-clinical-review\/#%E3%83%91%E3%82%B9%E3%82%BF%E7%99%82%E6%B3%95%EF%BC%88Lovastatin_Cholesterol_%E8%BB%9F%E8%86%8F%EF%BC%89\" >\u30d1\u30b9\u30bf\u7642\u6cd5\uff08Lovastatin \/ Cholesterol \u8edf\u818f\uff09<\/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\/child-syndrome-nscdl-genetics-clinical-review\/#%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%83%BB%E5%A4%9A%E8%A7%92%E7%9A%84%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\" >\u6574\u5f62\u5916\u79d1\u7684\u30fb\u591a\u89d2\u7684\u30a2\u30d7\u30ed\u30fc\u30c1<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/child-syndrome-nscdl-genetics-clinical-review\/#%E7%B5%90%E8%AB%96%EF%BC%9A%E5%B8%8C%E5%B0%91%E7%96%BE%E6%82%A3%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E7%90%86%E8%A7%A3%E3%81%A8%E5%B0%82%E9%96%80%E7%9A%84%E3%82%B1%E3%82%A2%E3%81%AE%E8%9E%8D%E5%90%88\" >\u7d50\u8ad6\uff1a\u5e0c\u5c11\u75be\u60a3\u306b\u304a\u3051\u308b\u7406\u89e3\u3068\u5c02\u9580\u7684\u30b1\u30a2\u306e\u878d\u5408<\/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%9A%E3%82%B3%E3%83%AC%E3%82%B9%E3%83%86%E3%83%AD%E3%83%BC%E3%83%AB%E5%90%88%E6%88%90%E7%B5%8C%E8%B7%AF%E3%81%AE%E7%A0%B4%E7%B6%BB\"><\/span><strong>1. \u5206\u5b50\u907a\u4f1d\u5b66\u7684\u80cc\u666f\uff1a\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u5408\u6210\u7d4c\u8def\u306e\u7834\u7dbb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CHILD\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u306f\u3001X\u67d3\u8272\u4f53\uff08Xq28\uff09\u4e0a\u306b\u4f4d\u7f6e\u3059\u308b<strong>NSDHL\u907a\u4f1d\u5b50<\/strong>\u306e\u75c5\u7684\u5909\u7570\u3067\u3042\u308b\u3053\u3068\u304c\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"NSDHL%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>NSDHL\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>NSDHL\uff08NAD[P]H steroid dehydrogenase-like\uff09\u907a\u4f1d\u5b50\u306f\u3001\u30e9\u30ce\u30b9\u30c6\u30ed\u30fc\u30eb\u304b\u3089\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u5408\u6210\u3059\u308b\u904e\u7a0b\u306b\u304a\u3051\u308b\u5f8c\u671f\u306e\u9175\u7d20\uff083\u03b2-hydroxysteroid dehydrogenase\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u6b20\u4e4f:<\/strong> \u5909\u7570\u306b\u3088\u3063\u3066\u9175\u7d20\u6d3b\u6027\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u7d30\u80de\u819c\u306e\u69cb\u7bc9\u3084\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u4e0d\u53ef\u6b20\u306a\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u304c\u4e0d\u8db3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e2d\u9593\u4ee3\u8b1d\u7269\u306e\u84c4\u7a4d:<\/strong> \u4ee3\u8b1d\u304c\u30b9\u30c8\u30c3\u30d7\u3059\u308b\u3053\u3068\u3067\u3001\u30e9\u30ce\u30b9\u30c6\u30ed\u30fc\u30eb\u306a\u3069\u306e\u4e0a\u6d41\u306e\u30b9\u30c6\u30ed\u30fc\u30eb\u4e2d\u9593\u4f53\u304c\u84c4\u7a4d\u3057\u3001\u3053\u308c\u304c\u7d30\u80de\u306b\u5bfe\u3057\u3066\u6bd2\u6027\u3092\u793a\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AA%E3%81%9C%E3%80%8C%E7%89%87%E5%81%B4%E3%80%8D%E3%81%AA%E3%81%AE%E3%81%8B%EF%BC%9F\"><\/span><strong>\u306a\u305c\u300c\u7247\u5074\u300d\u306a\u306e\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CHILD\u75c7\u5019\u7fa4\u306fX\u9023\u9396\u512a\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u5973\u6027\u306e\u5834\u5408\u30012\u672c\u306eX\u67d3\u8272\u4f53\u306e\u3046\u30611\u672c\u304c\u5404\u7d30\u80de\u3067\u30e9\u30f3\u30c0\u30e0\u306b\u4e0d\u6d3b\u6027\u5316\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u5909\u7570\u306e\u3042\u308bX\u67d3\u8272\u4f53\u304c\u6d3b\u6027\u5316\u3057\u3066\u3044\u308b\u7d30\u80de\u7fa4\u3067\u306f\u3001\u6b63\u5e38\u306a\u767a\u9054\u304c\u963b\u5bb3\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u80da\u767a\u751f\u306e\u521d\u671f\u6bb5\u968e\u306b\u304a\u3044\u3066\u3001\u5909\u7570\u7d30\u80de\u3068\u6b63\u5e38\u7d30\u80de\u304c\u5de6\u53f3\u3067\u4e0d\u5747\u8861\u306b\u5206\u5e03\u3059\u308b\u3053\u3068\u306b\u3088\u308a\u3001\u5883\u754c\u7dda\uff08\u30d6\u30e9\u30b7\u30e5\u30b3\u7dda\uff09\u306b\u6cbf\u3063\u305f\u3001\u3042\u308b\u3044\u306f\u6b63\u4e2d\u7dda\u3092\u5883\u3068\u3057\u305f\u53b3\u5bc6\u306a\u5de6\u53f3\u975e\u5bfe\u79f0\u306e\u75c7\u72b6\u304c\u5f62\u6210\u3055\u308c\u307e\u3059\u3002 \u203b\u7537\u6027\u306e\u5834\u5408\u3001X\u67d3\u8272\u4f53\u304c1\u672c\u3057\u304b\u306a\u3044\u305f\u3081\u901a\u5e38\u306f\u81f4\u6b7b\u7684\u3068\u306a\u308a\u307e\u3059\u304c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/klinefelter-syndrome\/\">\u30af\u30e9\u30a4\u30f3\u30d5\u30a7\u30eb\u30bf\u30fc\u75c7\u5019\u7fa4<\/a>\u3084\u4f53\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u4f8b\u3067\u767a\u75c7\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\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%E7%89%B9%E5%BE%B4%EF%BC%9A%E4%B8%89%E4%B8%BB%E5%BE%B4%E3%81%A8%E9%9A%8F%E4%BC%B4%E7%97%87%E7%8A%B6\"><\/span><strong>2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u4e09\u4e3b\u5fb4\u3068\u968f\u4f34\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CHILD\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306f\u3001\u4ee5\u4e0b\u306e\u7279\u5fb4\u7684\u306a\u81e8\u5e8a\u6240\u898b\u306b\u57fa\u3065\u3044\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E9%AD%9A%E9%B1%97%E7%99%AC%E6%A7%98%E6%AF%8D%E6%96%91%EF%BC%88CHILD_Nevus%EF%BC%89\"><\/span><strong>\u2460 \u9b5a\u9c57\u766c\u69d8\u6bcd\u6591\uff08CHILD Nevus\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u51fa\u751f\u6642\u307e\u305f\u306f\u4e73\u5150\u671f\u65e9\u671f\u306b\u73fe\u308c\u308b\u76ae\u819a\u306e\u7570\u5e38\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5916\u89b3:<\/strong> \u9bae\u3084\u304b\u306a\u8d64\u8272\u304b\u3089\u9ec4\u8272\u3092\u5e2f\u3073\u305f\u3001\u30ef\u30c3\u30af\u30b9\u72b6\u306e\u9c57\u5c51\uff08\u30d5\u30b1\u306e\u3088\u3046\u306a\u3082\u306e\uff09\u3092\u4f34\u3046\u7d05\u6591\u3002<\/li>\n\n\n\n<li><strong>\u5206\u5e03:<\/strong> \u8eab\u4f53\u306e\u7247\u5074\uff08\u53f3\u5074\u306b\u591a\u3044\u50be\u5411\u304c\u3042\u308b\uff09\u306b\u306e\u307f\u73fe\u308c\u3001\u6b63\u4e2d\u7dda\u3067\u30d4\u30bf\u30ea\u3068\u6b62\u307e\u308a\u307e\u3059\u3002\u7279\u306b\u308f\u304d\u306e\u4e0b\u3084\u80a1\u306e\u9593\u306a\u3069\u306e\u5c48\u66f2\u90e8\uff08Intertriginous areas\uff09\u3067\u75c7\u72b6\u304c\u5f37\u304f\u306a\u308b\u300cptychotropism\u300d\u3068\u3044\u3046\u7279\u5fb4\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%A1_%E5%85%88%E5%A4%A9%E6%80%A7%E5%81%8F%E5%81%B4%E5%BD%A2%E6%88%90%E4%B8%8D%E5%85%A8%EF%BC%88Hemidysplasia%EF%BC%89\"><\/span><strong>\u2461 \u5148\u5929\u6027\u504f\u5074\u5f62\u6210\u4e0d\u5168\uff08Hemidysplasia\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ae\u75b9\u304c\u3042\u308b\u5074\u3068\u540c\u3058\u5074\u306e\u8eab\u4f53\u5404\u90e8\u306b\u3001\u767a\u80b2\u4e0d\u5168\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u683c\u7cfb:<\/strong> \u56db\u80a2\u306e\u4f4e\u5f62\u6210\u3001\u6307\u306e\u6b20\u640d\u3001\u5074\u5f2f\u75c7\u306a\u3069\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5185\u81d3\u7cfb:<\/strong> \u7247\u5074\u306e\u80ba\u3001\u814e\u81d3\u3001\u8133\u3001\u3042\u308b\u3044\u306f\u5fc3\u8840\u7ba1\u7cfb\u306e\u4f4e\u5f62\u6210\u3092\u4f34\u3046\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=\"%E2%91%A2_%E8%82%A2%E4%BD%93%E6%AC%A0%E6%90%8D%EF%BC%88Limb_Defects%EF%BC%89\"><\/span><strong>\u2462 \u80a2\u4f53\u6b20\u640d\uff08Limb Defects\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6307\u306e\u77ed\u7e2e\u3068\u3044\u3063\u305f\u8efd\u5ea6\u306e\u3082\u306e\u304b\u3089\u3001\u56db\u80a2\u5168\u4f53\u306e\u6b20\u640d\uff08\u30a2\u30e1\u30ea\u30a2\uff09\u306b\u8fd1\u3044\u91cd\u5ea6\u306e\u3082\u306e\u307e\u3067\u3001\u591a\u5c90\u306b\u308f\u305f\u308b\u4f4e\u5f62\u6210\u304c\u7247\u5074\u306b\u8a8d\u3081\u3089\u308c\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\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%81%A8%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%EF%BC%9A%E7%B2%BE%E5%AF%86%E3%81%AA%E8%A9%95%E4%BE%A1%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>3. \u8a3a\u65ad\u3068\u9451\u5225\u8a3a\u65ad\uff1a\u7cbe\u5bc6\u306a\u8a55\u4fa1\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CHILD\u75c7\u5019\u7fa4\u306f\u975e\u5e38\u306b\u7a00\u3067\u3042\u308b\u305f\u3081\u3001\u4ed6\u306e\u76ae\u819a\u75be\u60a3\u3084\u904e\u6210\u9577\u75c7\u5019\u7fa4\u3068\u306e\u9451\u5225\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%AE%E6%89%8B%E9%A0%86\"><\/span><strong>\u8a3a\u65ad\u306e\u624b\u9806<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u6240\u898b\u306e\u78ba\u8a8d:<\/strong> \u6b63\u4e2d\u7dda\u3092\u8d8a\u3048\u306a\u3044\u7247\u5074\u6027\u306e\u76ae\u75b9\u3068\u80a2\u4f53\u7570\u5e38\u306e\u6709\u7121\u3002<\/li>\n\n\n\n<li><strong>\u7d44\u7e54\u75c5\u7406\u5b66\u7684\u691c\u67fb:<\/strong> \u76ae\u819a\u751f\u691c\u3092\u884c\u3044\u3001\u8868\u76ae\u306e\u4e73\u982d\u72b6\u5897\u6b96\u3084\u89d2\u8cea\u5c64\u4e0b\u306e\u597d\u4e2d\u7403\u6d78\u6f64\u3001\u771f\u76ae\u4e73\u982d\u306e\u6ce1\u6cab\u7d30\u80de\uff08verruciform xanthoma\u69d8\u5909\u5316\uff09\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb:<\/strong> NSDHL\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u540c\u5b9a\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%91%91%E5%88%A5%E3%81%99%E3%81%B9%E3%81%8D%E7%96%BE%E6%82%A3\"><\/span><strong>\u9451\u5225\u3059\u3079\u304d\u75be\u60a3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7dda\u72b6\u8868\u76ae\u6bcd\u6591:<\/strong> \u5de6\u53f3\u975e\u5bfe\u79f0\u306b\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001CHILD\u75c7\u5019\u7fa4\u7279\u6709\u306e\u8102\u8cea\u4ee3\u8b1d\u7570\u5e38\u3084\u591a\u7cfb\u7d71\u306e\u5f62\u6210\u4e0d\u5168\u3092\u4f34\u3044\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u30b3\u30f3\u30e9\u30c7\u30a3\u30fb\u30d2\u30e5\u30fc\u30cd\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\uff08CDPX2\uff09:<\/strong> EBP\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u4ee3\u8b1d\u7570\u5e38\u75c7\u3002\u70b9\u72b6\u8edf\u9aa8\u77f3\u7070\u5316\u3092\u4f34\u3044\u3001\u76ae\u75b9\u304c\u7db2\u76ee\u72b6\u306b\u306a\u308b\u70b9\u304c\u7570\u306a\u308a\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\/3448699_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121744\"\/><\/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%E6%9C%80%E6%96%B0%E3%81%AE%E7%AE%A1%E7%90%86%E6%88%A6%E7%95%A5%EF%BC%9A%E7%97%85%E6%85%8B%E3%81%AB%E5%9F%BA%E3%81%A5%E3%81%8F%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\"><\/span><strong>4. \u6cbb\u7642\u3068\u6700\u65b0\u306e\u7ba1\u7406\u6226\u7565\uff1a\u75c5\u614b\u306b\u57fa\u3065\u304f\u30a2\u30d7\u30ed\u30fc\u30c1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u306f\u672a\u78ba\u7acb\u3067\u3059\u304c\u3001\u8fd1\u5e74\u3001\u75c5\u614b\u6a5f\u5e8f\uff08\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u4e0d\u8db3\u3068\u4e2d\u9593\u4ee3\u8b1d\u7269\u306e\u84c4\u7a4d\uff09\u306b\u57fa\u3065\u3044\u305f\u753b\u671f\u7684\u306a\u5c40\u6240\u7642\u6cd5\u304c\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%91%E3%82%B9%E3%82%BF%E7%99%82%E6%B3%95%EF%BC%88Lovastatin_Cholesterol_%E8%BB%9F%E8%86%8F%EF%BC%89\"><\/span><strong>\u30d1\u30b9\u30bf\u7642\u6cd5\uff08Lovastatin \/ Cholesterol \u8edf\u818f\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u84c4\u7a4d\u3059\u308b\u6709\u6bd2\u306a\u4e2d\u9593\u4ee3\u8b1d\u7269\u3092\u6291\u3048\u3001\u4e0d\u8db3\u3059\u308b\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u88dc\u3046\u305f\u3081\u306e\u6cbb\u7642\u6cd5\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ed\u30d0\u30b9\u30bf\u30c1\u30f3\uff08\u30b9\u30bf\u30c1\u30f3\u88fd\u5264\uff09:<\/strong> HMG-CoA\u9084\u5143\u9175\u7d20\u3092\u963b\u5bb3\u3057\u3001\u4e0a\u6d41\u3067\u306e\u4ee3\u8b1d\u3092\u6b62\u3081\u308b\u3053\u3068\u3067\u3001\u6709\u5bb3\u306a\u4e2d\u9593\u4f53\uff08\u30b9\u30c6\u30ed\u30fc\u30eb\uff09\u306e\u84c4\u7a4d\u3092\u6291\u5236\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306e\u88dc\u5145:<\/strong> \u5c40\u6240\u304b\u3089\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u88dc\u3044\u3001\u76ae\u819a\u30d0\u30ea\u30a2\u6a5f\u80fd\u3092\u56de\u5fa9\u3055\u305b\u307e\u3059\u3002 \u3053\u306e\u4f75\u7528\u7642\u6cd5\u306b\u3088\u308a\u3001\u96e3\u6cbb\u6027\u3067\u3042\u3063\u305fCHILD\u6bcd\u6591\u304c\u5287\u7684\u306b\u6539\u5584\u3057\u305f\u75c7\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001QOL\u5411\u4e0a\u306e\u5927\u304d\u306a\u5e0c\u671b\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%83%BB%E5%A4%9A%E8%A7%92%E7%9A%84%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\"><\/span><strong>\u6574\u5f62\u5916\u79d1\u7684\u30fb\u591a\u89d2\u7684\u30a2\u30d7\u30ed\u30fc\u30c1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u80a2\u4f53\u4e0d\u81ea\u7531\u306b\u5bfe\u3057\u3066\u306f\u3001\u7fa9\u80a2\u306e\u4f5c\u88fd\u3001\u7406\u5b66\u7642\u6cd5\u3001\u3042\u308b\u3044\u306f\u5916\u79d1\u7684\u306a\u77ef\u6b63\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u5185\u81d3\u306e\u5408\u4f75\u75c7\uff08\u5fc3\u75be\u60a3\u3084\u814e\u4e0d\u5168\uff09\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5404\u5c02\u9580\u533b\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u4e0d\u53ef\u6b20\u3067\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%EF%BC%9A%E5%B8%8C%E5%B0%91%E7%96%BE%E6%82%A3%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E7%90%86%E8%A7%A3%E3%81%A8%E5%B0%82%E9%96%80%E7%9A%84%E3%82%B1%E3%82%A2%E3%81%AE%E8%9E%8D%E5%90%88\"><\/span><strong>\u7d50\u8ad6\uff1a\u5e0c\u5c11\u75be\u60a3\u306b\u304a\u3051\u308b\u7406\u89e3\u3068\u5c02\u9580\u7684\u30b1\u30a2\u306e\u878d\u5408<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CHILD\u75c7\u5019\u7fa4\u306f\u3001\u5358\u306a\u308b\u76ae\u819a\u306e\u75c5\u6c17\u3067\u306f\u306a\u304f\u3001\u5168\u8eab\u306e\u767a\u751f\u306b\u95a2\u308f\u308b\u8907\u96d1\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3057\u304b\u3057\u3001NSDHL\u907a\u4f1d\u5b50\u306e\u540c\u5b9a\u3068\u305d\u308c\u306b\u57fa\u3065\u304f\u30ed\u30d0\u30b9\u30bf\u30c1\u30f3\u30fb\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u7642\u6cd5\u306e\u767b\u5834\u306b\u3088\u308a\u3001\u6cbb\u7642\u306e\u30d1\u30e9\u30c0\u30a4\u30e0\u306f\u5927\u304d\u304f\u5909\u308f\u308a\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5de6\u53f3\u975e\u5bfe\u79f0\u3068\u3044\u3046\u7279\u7570\u306a\u75c7\u72b6\u306b\u96a0\u3055\u308c\u305f\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3001\u65e9\u671f\u306b\u9069\u5207\u306a\u5c02\u9580\u7684\u4ecb\u5165\u3092\u884c\u3046\u3053\u3068\u304c\u3001\u60a3\u8005\u3055\u3093\u306e\u5fc3\u8eab\u4e21\u9762\u306b\u304a\u3051\u308b\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u652f\u3048\u308b\u9375\u3068\u306a\u308a\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":"CHILD\u75c7\u5019\u7fa4\uff08Congenital &#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/child-syndrome-nscdl-genetics-clinical-review\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":121583,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122823","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\/122823","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=122823"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122823\/revisions"}],"predecessor-version":[{"id":126216,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122823\/revisions\/126216"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121583"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122823"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122823"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122823"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}