{"id":112017,"date":"2025-07-01T14:02:57","date_gmt":"2025-07-01T05:02:57","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/"},"modified":"2025-08-22T16:50:18","modified_gmt":"2025-08-22T07:50:18","slug":"smith-lemli-opitz-dhcr7-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=en","title":{"rendered":"Overview of Smith-Lemli-Opitz Syndrome"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"<\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    <div>\n  <p>\n    This article provides a clear, science-backed overview of Smith-Lemli-Opitz Syndrome. It explains how mutations in the DHCR7 gene disrupt cholesterol production, leading to developmental, physical, and behavioral challenges. Readers will understand how the condition is diagnosed, managed through cholesterol supplementation and supportive care, and what to expect in terms of outcomes and genetic counseling.\n <\/p>\n<\/div>\n\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Implicated Genomic Region<\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>DHCR7<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/DHCR7-hgtIdeo_genome_asia_e0cb5_34d180-1024x26.png\" alt=\"DHCR7\" class=\"wp-image-102817\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" 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\/smith-lemli-opitz-dhcr7-overview\/?lang=en\/#Overview_of_Smith-Lemli-Opitz_Syndrome\" >Overview of Smith-Lemli-Opitz Syndrome<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=en\/#The_Genetic_and_Biological_Basis_of_SLOS\" >The Genetic and Biological Basis of SLOS<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=en\/#Clinical_Presentation_and_Symptoms\" >Clinical Presentation and Symptoms<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=en\/#Growth_and_Developmental_Delays\" >Growth and Developmental Delays<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=en\/#Neurological_and_Behavioral_Features\" >Neurological and Behavioral Features<\/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\/smith-lemli-opitz-dhcr7-overview\/?lang=en\/#Physical_Abnormalities\" >Physical Abnormalities<\/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\/smith-lemli-opitz-dhcr7-overview\/?lang=en\/#Cardiovascular_Urinary_and_Gastrointestinal_Issues\" >Cardiovascular, Urinary, and Gastrointestinal Issues<\/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\/smith-lemli-opitz-dhcr7-overview\/?lang=en\/#Diagnosis\" >Diagnosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=en\/#Management_and_Treatment\" >Management and Treatment<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=en\/#Cholesterol_Supplementation\" >Cholesterol Supplementation<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=en\/#Experimental_Approaches\" >Experimental Approaches<\/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\/smith-lemli-opitz-dhcr7-overview\/?lang=en\/#Nutritional_and_Endocrine_Support\" >Nutritional and Endocrine Support<\/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\/smith-lemli-opitz-dhcr7-overview\/?lang=en\/#Developmental_and_Behavioral_Interventions\" >Developmental and Behavioral Interventions<\/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\/smith-lemli-opitz-dhcr7-overview\/?lang=en\/#Prognosis\" >Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=en\/#Genetic_Counseling\" >Genetic Counseling<\/a><\/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\/smith-lemli-opitz-dhcr7-overview\/?lang=en\/#Conclusion\" >Conclusion<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Overview_of_Smith-Lemli-Opitz_Syndrome\"><\/span><strong>Overview of Smith-Lemli-Opitz Syndrome<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Smith-Lemli-Opitz Syndrome, often abbreviated as SLOS, is a rare but well-documented genetic condition that interferes with the body\u2019s ability to produce cholesterol. The disorder arises from a defect in the <strong>DHCR7 gene<\/strong>, which is responsible for the final step in the biochemical pathway that synthesizes cholesterol. When this gene does not function as it should, the body produces less cholesterol and instead accumulates an intermediate compound called <strong>7-dehydrocholesterol (7-DHC)<\/strong>.<\/p>\n\n\n\n<p>Cholesterol is far more than a molecule associated with diet. It is a structural component of cell membranes, supports the development and function of the brain, and is required for the synthesis of steroid hormones, bile acids, and vitamin D. A disruption to cholesterol metabolism during fetal development and throughout life therefore has widespread consequences, explaining the diverse symptoms associated with SLOS.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"The_Genetic_and_Biological_Basis_of_SLOS\"><\/span><strong>The Genetic and Biological Basis of SLOS<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The underlying cause of SLOS lies in <strong>mutations of the DHCR7 gene<\/strong>, which is located on <strong>chromosome 11<\/strong>. This gene encodes the enzyme 7-dehydrocholesterol reductase, an enzyme essential for converting 7-DHC to cholesterol. When the enzyme\u2019s function is reduced or lost, cholesterol levels drop, and levels of 7-DHC rise.<\/p>\n\n\n\n<p>SLOS is inherited in an <strong>autosomal recessive<\/strong> manner. This means that a child must inherit one mutated copy of the DHCR7 gene from each parent to develop the condition. Individuals who carry only one copy of the mutation are typically healthy but can pass the altered gene to their children. Globally, the syndrome is rare, occurring in approximately <strong>1 in 20,000 to 60,000 live births<\/strong>, although rates vary among populations.<\/p>\n\n\n\n<p>Understanding the biochemical pathway involved has been central to explaining why the syndrome affects multiple organ systems. Cholesterol is critical during embryonic development, particularly in cell signaling pathways like the Sonic Hedgehog pathway, which guides organ formation and brain development. A disruption in this pathway during gestation explains many of the structural anomalies and neurodevelopmental differences seen in affected individuals.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Clinical_Presentation_and_Symptoms\"><\/span><strong>Clinical Presentation and Symptoms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The symptoms of SLOS are varied, reflecting the central role of cholesterol in multiple biological systems. These symptoms often become apparent before birth and continue to affect growth and development throughout life.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Growth_and_Developmental_Delays\"><\/span><strong>Growth and Developmental Delays<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Growth issues are common and typically noticeable during pregnancy through restricted intrauterine growth. After birth, infants often have <strong>low birth weight<\/strong> and <strong>shorter stature<\/strong> compared to peers. These growth delays usually persist into childhood and sometimes adulthood.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Neurological_and_Behavioral_Features\"><\/span><strong>Neurological and Behavioral Features<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Because cholesterol is a key component of the central nervous system, its deficiency significantly impacts neurological development. Children with SLOS often experience <strong>intellectual disabilities<\/strong> and <strong>moderate to severe developmental delays<\/strong>. Behavioral features frequently overlap with traits observed in <strong>autism spectrum disorder (ASD)<\/strong>, such as difficulty with social interactions, repetitive behaviors, and heightened sensitivity to sensory input. These manifestations underline the importance of cholesterol in neural signaling and synapse formation.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Physical_Abnormalities\"><\/span><strong>Physical Abnormalities<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Many children with SLOS have distinctive physical characteristics. A smaller head size, known as <strong>microcephaly<\/strong>, is common. Facial differences may also be present, though these can vary in subtlety. Limb anomalies are frequent, particularly <strong>syndactyly<\/strong>, where fingers or toes are fused, and <strong>polydactyly<\/strong>, where extra digits are present. These structural changes are consistent with the developmental role of cholesterol in limb patterning during embryogenesis.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Cardiovascular_Urinary_and_Gastrointestinal_Issues\"><\/span><strong>Cardiovascular, Urinary, and Gastrointestinal Issues<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>The effects of cholesterol deficiency extend beyond the nervous system and physical growth. <strong>Heart defects<\/strong> are common, including <strong>atrial septal defects (ASD)<\/strong>, <strong>ventricular septal defects (VSD)<\/strong>, and a patent <strong>ductus arteriosus<\/strong>, all of which can affect cardiovascular function. The gastrointestinal system is also frequently affected, with issues such as <strong>feeding difficulties<\/strong>, poor weight gain, gastroesophageal reflux, and in some cases, <strong>pyloric stenosis<\/strong>, a narrowing of the stomach outlet. Urinary tract malformations may also occur, adding complexity to early medical management.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Diagnosis\"><\/span><strong>Diagnosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Diagnosing SLOS relies on a combination of clinical observation, biochemical testing, and genetic confirmation. Physicians typically begin by <strong>measuring cholesterol and 7-DHC levels in the blood<\/strong>, as the characteristic biochemical signature of SLOS is a marked reduction in cholesterol accompanied by elevated 7-DHC.<\/p>\n\n\n\n<p><strong>Genetic testing<\/strong> is then used to identify specific mutations in the DHCR7 gene, which confirms the diagnosis and informs genetic counseling for the family. During pregnancy, <strong>ultrasound imaging<\/strong> may detect physical malformations suggestive of the syndrome, particularly when there is a known family history. After birth, additional assessments, such as <strong>hearing and vision screenings<\/strong>, help to identify sensory impairments that may need early intervention.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Management_and_Treatment\"><\/span><strong>Management and Treatment<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>While there is currently <strong>no cure<\/strong> for SLOS, treatment focuses on mitigating the effects of cholesterol deficiency and supporting healthy development. Management strategies are highly individualized, reflecting the range and severity of symptoms.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Cholesterol_Supplementation\"><\/span><strong>Cholesterol Supplementation<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Supplementing cholesterol, often through dietary sources or specialized formulas, is the cornerstone of treatment. By increasing cholesterol levels, supplementation can help improve physical growth, support the production of steroid hormones, and, in some cases, modestly improve developmental outcomes.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Experimental_Approaches\"><\/span><strong>Experimental Approaches<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Research into <strong>statin therapy<\/strong> is ongoing. Statins, typically known for reducing cholesterol in hyperlipidemia, are used in SLOS in an attempt to decrease levels of toxic precursors like 7-DHC while allowing supplemented cholesterol to be utilized more effectively. However, this remains an experimental approach with no consensus on long-term benefits.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Nutritional_and_Endocrine_Support\"><\/span><strong>Nutritional and Endocrine Support<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Feeding difficulties are common, and infants often require <strong>high-calorie nutritional support<\/strong> or even <strong>feeding tubes<\/strong> to maintain adequate growth. Because cholesterol is also a precursor for steroid hormones, ongoing <strong>endocrine care<\/strong> is important to monitor and manage hormones such as cortisol and testosterone, which play critical roles in metabolism, stress responses, and physical development.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Developmental_and_Behavioral_Interventions\"><\/span><strong>Developmental and Behavioral Interventions<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> and consistent intervention is key to optimizing outcomes. <strong>Physical, occupational, and speech therapies<\/strong> are frequently employed to support motor development, communication, and adaptive functioning. Behavioral therapies may help manage sensory sensitivities and behaviors associated with autism spectrum conditions.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Prognosis\"><\/span><strong>Prognosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The outlook for individuals with SLOS is variable and depends on the severity of biochemical disruption and associated symptoms. In the most <strong>severe cases<\/strong>, SLOS can be fatal during the neonatal period due to profound systemic complications. In <strong>milder presentations<\/strong>, with early diagnosis and comprehensive care, many individuals achieve significant developmental progress and live into adolescence or adulthood. Long-term studies are still ongoing, as improved medical support has only recently begun to extend life expectancy in this population.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Genetic_Counseling\"><\/span><strong>Genetic Counseling<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Because SLOS follows an autosomal recessive pattern, <strong>genetic counseling<\/strong> is recommended for all affected families. Counseling helps clarify recurrence risks, identifies carrier status in parents or siblings, and informs decisions about <strong>prenatal and preimplantation testing<\/strong> in future pregnancies.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Conclusion\"><\/span><strong>Conclusion<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Smith-Lemli-Opitz Syndrome is a complex genetic condition rooted in disrupted cholesterol metabolism. Its wide spectrum of symptoms, from growth delays and structural anomalies to behavioral and cognitive challenges, reflects the central role of cholesterol in development and physiology. Although no definitive cure exists, early diagnosis, cholesterol supplementation, targeted medical care, and supportive therapies significantly improve both quality of life and long-term outcomes for those living with the syndrome.<\/p>\n\n\n\n<!-- \u3042\u3044\u3046\u3048\u304a\u304b\u304d\u304f\u3051\u3053\u3055\u3057\u3059\u305b\u305d\u305f\u3061\u3064\u3066\u3068-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@graph\": [\n    {\n      \"@type\": \"WebPage\",\n      \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\",\n      \"url\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\",\n      \"name\": \"\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u3068DHCR7\u907a\u4f1d\u5b50\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n      \"inLanguage\": \"ja\",\n      \"description\": \"\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\uff08SLOS\uff09\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u691c\u67fb\u3001\u6cbb\u7642\u3001\u4e88\u5f8c\u306b\u3064\u3044\u3066\u533b\u7642\u5f93\u4e8b\u8005\u3068\u4fdd\u8b77\u8005\u306e\u65b9\u5411\u3051\u306b\u308f\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3057\u305f\u533b\u7642\u60c5\u5831\u30da\u30fc\u30b8\u3067\u3059\u3002\",\n      \"datePublished\": \"2025-07-01\",\n      \"mainEntity\": {\n        \"@id\": \"#slos\"\n      },\n      \"isPartOf\": {\n        \"@type\": \"MedicalWebPage\",\n        \"medicalSpecialty\": [\n          \"Pediatrics\",\n          \"MedicalGenetics\",\n          \"Neurology\"\n        ]\n      }\n    },\n    {\n      \"@type\": \"Article\",\n      \"headline\": \"\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u3068DHCR7\u907a\u4f1d\u5b50\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n      \"author\": {\n        \"@type\": \"Person\",\n        \"name\": \"HUMEDIT Contents Team\",\n        \"affiliation\": {\n          \"@type\": \"Organization\",\n          \"name\": \"\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n          \"url\": \"https:\/\/www.hiro-clinic.or.jp\"\n        }\n      },\n      \"publisher\": {\n        \"@type\": \"Organization\",\n        \"name\": \"\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n        \"url\": \"https:\/\/www.hiro-clinic.or.jp\"\n      },\n      \"datePublished\": \"2025-07-01\",\n      \"inLanguage\": \"ja\",\n      \"mainEntityOfPage\": {\n        \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\"\n      },\n      \"audience\": [\n        {\n          \"@type\": \"PeopleAudience\",\n          \"audienceType\": \"Caregivers\"\n        },\n        {\n          \"@type\": \"MedicalAudience\",\n          \"medicalAudienceType\": \"Clinician\"\n        }\n      ],\n      \"description\": \"\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\uff08SLOS\uff09\u306e\u6982\u8981\u3001DHCR7\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3001\u75c7\u72b6\u3001\u691c\u67fb\u65b9\u6cd5\u3001\u6cbb\u7642\u3001\u4e88\u5f8c\u306b\u3064\u3044\u3066\u3084\u3055\u3057\u304f\u4e01\u5be7\u306b\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002\",\n      \"citation\": [\n        {\n          \"@type\": \"ScholarlyArticle\",\n          \"name\": \"Statins for Smith-Lemli-Opitz Syndrome\",\n          \"url\": \"https:\/\/doi.org\/10.1002\/14651858.CD013521.pub2\"\n        },\n        {\n          \"@type\": \"ScholarlyArticle\",\n          \"name\": \"GC-MS as a Tool for Reliable Non-Invasive Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome\",\n          \"url\": \"https:\/\/doi.org\/10.5603\/GP.2020.0049\"\n        },\n        {\n          \"@type\": \"ScholarlyArticle\",\n          \"name\": \"Auditory Phenotype of Smith\u2013Lemli\u2013Opitz Syndrome\",\n          \"url\": \"https:\/\/doi.org\/10.1002\/ajmg.a.62087\"\n        },\n        {\n          \"@type\": \"ScholarlyArticle\",\n          \"name\": \"Assessing Postnatal Mortality in Smith\u2013Lemli\u2013Opitz Syndrome\",\n          \"url\": \"https:\/\/doi.org\/10.1002\/ajmg.a.63875\"\n        },\n        {\n          \"@type\": \"ScholarlyArticle\",\n          \"name\": \"Smith-Lemli-Optiz Syndrome: Importance of Ophthalmology Referral and Follow-Up\",\n          \"url\": \"https:\/\/doi.org\/10.1016\/j.jaapos.2022.11.007\"\n        },\n        {\n          \"@type\": \"ScholarlyArticle\",\n          \"name\": \"Smith-Lemli-Opitz Syndrome: Clinical and Biochemical Correlates\",\n          \"url\": \"https:\/\/doi.org\/10.1515\/jpem-2017-0501\"\n        },\n        {\n          \"@type\": \"ScholarlyArticle\",\n          \"name\": \"Vitamin D Levels in Smith\u2010Lemli\u2010Opitz Syndrome\",\n          \"url\": \"https:\/\/doi.org\/10.1002\/ajmg.a.38361\"\n        },\n        {\n          \"@type\": \"ScholarlyArticle\",\n          \"name\": \"Smith\u2013Lemli\u2013Opitz Syndrome Carrier Frequency and In Utero Mortality\",\n          \"url\": \"https:\/\/doi.org\/10.1002\/pd.5018\"\n        },\n        {\n          \"@type\": \"CreativeWork\",\n          \"name\": \"Smith-Lemli-Opitz Syndrome. GeneReviews\u00ae\",\n          \"url\": \"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1143\/\"\n        },\n        {\n          \"@type\": \"ScholarlyArticle\",\n          \"name\": \"The UCSC Genome Browser database: 2025 update\",\n          \"url\": \"https:\/\/doi.org\/10.1093\/nar\/gkae974\"\n        }\n      ]\n    },\n    {\n      \"@type\": \"MedicalCondition\",\n      \"@id\": \"#slos\",\n      \"name\": \"\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\",\n      \"alternateName\": \"Smith-Lemli-Opitz Syndrome\",\n      \"identifier\": \"OMIM:270400\",\n      \"cause\": {\n        \"@type\": \"MedicalCause\",\n        \"name\": \"DHCR7\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\"\n      },\n      \"associatedAnatomy\": [\n        { \"@type\": \"AnatomicalStructure\", \"name\": \"\u8133\" },\n        { \"@type\": \"AnatomicalStructure\", \"name\": \"\u526f\u814e\" },\n        { \"@type\": \"AnatomicalStructure\", \"name\": \"\u7cbe\u5de3\" }\n      ],\n      \"possibleTreatment\": [\n        { \"@type\": \"MedicalTherapy\", \"name\": \"\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u88dc\u5145\u7642\u6cd5\" },\n        { \"@type\": \"MedicalTherapy\", \"name\": \"\u30b9\u30bf\u30c1\u30f3\u7642\u6cd5\uff08\u7814\u7a76\u6bb5\u968e\uff09\" },\n        { \"@type\": \"MedicalTherapy\", \"name\": \"\u767a\u9054\u652f\u63f4\u3068\u591a\u8077\u7a2e\u30b1\u30a2\" }\n      ],\n      \"signOrSymptom\": [\n        { \"@type\": \"MedicalSignOrSymptom\", \"name\": \"\u77e5\u7684\u969c\u5bb3\" },\n        { \"@type\": \"MedicalSignOrSymptom\", \"name\": \"\u5408\u6307\u75c7\" },\n        { \"@type\": \"MedicalSignOrSymptom\", \"name\": \"\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u69d8\u306e\u884c\u52d5\" },\n        { \"@type\": \"MedicalSignOrSymptom\", \"name\": \"\u5fc3\u81d3\u5947\u5f62\" },\n        { \"@type\": \"MedicalSignOrSymptom\", \"name\": \"\u5c3f\u9053\u4e0b\u88c2\" }\n      ],\n      \"inLanguage\": \"ja\",\n      \"url\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\"\n    }\n  ]\n}\n<\/script>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":79,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-112017","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/112017","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\/79"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=112017"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/112017\/revisions"}],"predecessor-version":[{"id":112031,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/112017\/revisions\/112031"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=112017"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=112017"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=112017"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}