{"id":111832,"date":"2025-06-12T16:15:51","date_gmt":"2025-06-12T07:15:51","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/"},"modified":"2025-08-22T14:15:17","modified_gmt":"2025-08-22T05:15:17","slug":"rhizomelic-chondrodysplasia-punctata-type-3","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en","title":{"rendered":"\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u30bf\u30a4\u30d73\u3010AGPS\u3011"},"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  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_83 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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\" >\u3084\u3055\u3057\u3044\u307e\u3068\u3081<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\" >\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Rhizomelic_Chondrodysplasia_Punctata_Type_3_RCDP3\" >Rhizomelic Chondrodysplasia Punctata Type 3 (RCDP3)<\/a><\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Genetic_and_Molecular_Basis\" >Genetic and Molecular Basis<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#The_AGPS_Gene\" >The AGPS Gene<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Role_of_Plasmalogen\" >Role of Plasmalogen<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Inheritance_Pattern\" >Inheritance Pattern<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Overview_of_RCDP_and_Its_Subtypes\" >Overview of RCDP and Its Subtypes<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Epidemiology\" >Epidemiology<\/a><\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Pathophysiology\" >Pathophysiology<\/a><\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Symptoms\" >Symptoms<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Classical_RCDP3\" >Classical RCDP3<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Milder_or_Atypical_Forms\" >Milder or Atypical Forms<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Diagnosis\" >Diagnosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Biochemical_Tests\" >Biochemical Tests<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Imaging_and_Clinical_Evaluation\" >Imaging and Clinical Evaluation<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Genetic_Testing\" >Genetic Testing<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Current_Approaches\" >Current Approaches<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Multidisciplinary_Care\" >Multidisciplinary Care<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Prognosis\" >Prognosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Severe_or_Classical_RCDP3\" >Severe or Classical RCDP3<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#Milder_RCDP3\" >Milder RCDP3<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\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;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    <p>\nThis article explains RCDP3, an ultra-rare genetic condition that impacts bone growth, neurological development, and organ function. It provides clear, research-based information on its causes, key symptoms, testing, and current care approaches to support families, caregivers, and medical professionals.\n\n<\/p>\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\"><\/span>\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<span class=\"ez-toc-section-end\"><\/span><\/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>AGPS<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"25\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/AGPS-hgtIdeo_genome_36105d_a74060-1024x25.png\" alt=\"AGPS\" class=\"wp-image-101122\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Rhizomelic_Chondrodysplasia_Punctata_Type_3_RCDP3\"><\/span><strong>Rhizomelic Chondrodysplasia Punctata Type 3 (RCDP3)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Rhizomelic Chondrodysplasia Punctata Type 3, or RCDP3, is an extremely rare genetic disorder that affects bone growth, neurological development, eye health, and respiratory function. This guide explains the condition in clear, evidence-based language to help families, caregivers, and medical professionals better understand its causes, symptoms, diagnostic methods, management options, and long-term outlook.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Genetic_and_Molecular_Basis\"><\/span><strong>Genetic and Molecular Basis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"The_AGPS_Gene\"><\/span><strong>The AGPS Gene<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>RCDP3 is caused by mutations in the <strong>AGPS<\/strong> gene, located on the long arm of chromosome 2 at position 2q31.2. The AGPS gene provides instructions for producing the enzyme <strong>alkylglycerone phosphate synthase<\/strong>, which operates within small cell structures called peroxisomes.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Role_of_Plasmalogen\"><\/span><strong>Role of Plasmalogen<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>The AGPS enzyme is critical for synthesizing <strong>plasmalogens<\/strong>, a specialized class of lipids abundant in the brain, heart, and lungs. Plasmalogens help maintain the flexibility of cell membranes, support nerve cell function, and protect tissues from oxidative stress. Without functional AGPS, plasmalogen production is impaired, disrupting cell signaling and overall organ development.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Inheritance_Pattern\"><\/span><strong>Inheritance Pattern<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>RCDP3 follows an <strong>autosomal recessive<\/strong> inheritance pattern. This means a child must inherit two faulty copies of the AGPS gene, one from each parent, to develop the disorder. Carriers with only one mutated gene typically show no symptoms.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Overview_of_RCDP_and_Its_Subtypes\"><\/span><strong>Overview of RCDP and Its Subtypes<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Rhizomelic Chondrodysplasia Punctata (RCDP) refers to a group of peroxisomal disorders. In RCDP3, only the AGPS enzyme is dysfunctional, while the peroxisomes themselves remain structurally intact.<\/p>\n\n\n\n<p>The hallmark features of RCDP3 include shortened bones in the upper arms and thighs (known as <strong>rhizomelia<\/strong>), distinctive facial features, congenital cataracts, intellectual disability, and variable levels of muscle stiffness.<\/p>\n\n\n\n<p>There are five known types of RCDP. RCDP3 is the rarest, with only a handful of genetically confirmed cases worldwide.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Epidemiology\"><\/span><strong>Epidemiology<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>RCDP in general is extremely uncommon, with an estimated prevalence of <strong>0.5 to 0.7 per 100,000 births<\/strong>. Among these cases, RCDP3 is rarer still, with fewer than 10 confirmed cases globally. Based on current genetic testing rates, fewer than one new case is expected annually across major regions such as the United States and the five largest European countries.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Pathophysiology\"><\/span><strong>Pathophysiology<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>When the AGPS enzyme fails to function, plasmalogens are not produced at levels needed for healthy growth and development. This deficiency impairs cell membrane flexibility and disrupts critical processes such as nerve signaling and protection against oxidative damage. The lack of plasmalogen explains the multi-system effects of the disorder, including neurological, skeletal, and respiratory complications.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Symptoms\"><\/span><strong>Symptoms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Classical_RCDP3\"><\/span><strong>Classical RCDP3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>The more severe, or classical, form typically presents shortly after birth with a consistent group of symptoms:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Bone abnormalities<\/strong> such as rhizomelia, stippled calcifications in bone ends, and spinal deformities<br><\/li>\n\n\n\n<li><strong>Distinctive facial features<\/strong> including a wide forehead, midfacial hypoplasia, widely spaced eyes, a small upturned nose, and low-set ears<br><\/li>\n\n\n\n<li><strong>Eye abnormalities<\/strong> such as congenital cataracts, strabismus, and involuntary eye movements (nystagmus)<br><\/li>\n\n\n\n<li><strong>Neurological symptoms<\/strong> including severe intellectual disability, seizures, and either low or increased muscle tone<br><\/li>\n\n\n\n<li><strong>Growth restriction<\/strong> with low birth weight and markedly short stature<br><\/li>\n\n\n\n<li><strong>Respiratory problems<\/strong> including recurrent pneumonia and, in many cases, respiratory failure<br><\/li>\n\n\n\n<li><strong>Cardiac involvement<\/strong> in some individuals, such as structural defects like Tetralogy of Fallot<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Milder_or_Atypical_Forms\"><\/span><strong>Milder or Atypical Forms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Atypical RCDP3 presents with a broader spectrum of outcomes. Some individuals:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Achieve limited mobility, such as walking independently<br><\/li>\n\n\n\n<li>Speak in simple words or short sentences<br><\/li>\n\n\n\n<li>Experience joint contractures or scoliosis<br><\/li>\n\n\n\n<li>Show neurodevelopmental disorders, including <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>, autism spectrum traits, or anxiety disorders<br><\/li>\n\n\n\n<li>Live into adolescence or adulthood, though with ongoing health challenges<br><\/li>\n<\/ul>\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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Biochemical_Tests\"><\/span><strong>Biochemical Tests<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Markedly reduced or absent plasmalogen levels in red blood cells in classical cases; low but measurable levels in milder cases<br><\/li>\n\n\n\n<li>Elevated <strong>phytanic acid<\/strong> levels, indicating disrupted lipid metabolism<br><\/li>\n\n\n\n<li>Normal or mildly elevated levels of <strong>very long chain fatty acids (VLCFAs)<\/strong><strong><br><\/strong><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Imaging_and_Clinical_Evaluation\"><\/span><strong>Imaging and Clinical Evaluation<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>X-rays<\/strong> showing rhizomelia and stippled bone calcifications<br><\/li>\n\n\n\n<li><strong>MRI scans<\/strong> detecting white matter abnormalities or brain atrophy<br><\/li>\n\n\n\n<li><strong>Ultrasound<\/strong> to assess hip dislocation<br><\/li>\n\n\n\n<li><strong>Echocardiograms<\/strong> to evaluate for heart defects<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Genetic_Testing\"><\/span><strong>Genetic Testing<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>A definitive diagnosis relies on genetic sequencing to detect AGPS mutations. Techniques such as Sanger sequencing or whole exome sequencing are used. Carrier testing is recommended for parents and close family members to guide genetic counseling.<\/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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Current_Approaches\"><\/span><strong>Current Approaches<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>There is no cure for RCDP3. Management focuses on treating symptoms and maintaining the best possible quality of life.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Multidisciplinary_Care\"><\/span><strong>Multidisciplinary Care<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Ophthalmology<\/strong>: <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> cataract surgery to preserve vision<br><\/li>\n\n\n\n<li><strong>Orthopedics and Rehabilitation<\/strong>: Surgery and physical therapy to address joint limitations and mobility<br><\/li>\n\n\n\n<li><strong>Neurology<\/strong>: Anti-epileptic medication for seizure control, along with targeted physical therapy<br><\/li>\n\n\n\n<li><strong>Respiratory Support<\/strong>: Preventive measures for infections, supplemental oxygen, or mechanical ventilation when needed<br><\/li>\n\n\n\n<li><strong>Nutritional Support<\/strong>: Assistance with feeding difficulties and tailored growth support plans<br><\/li>\n\n\n\n<li><strong>Behavioral and Educational Support<\/strong>: Therapy for developmental disorders and medications such as gabapentin or guanfacine where appropriate<br><\/li>\n\n\n\n<li><strong>Genetic Counseling<\/strong>: Information for families regarding inheritance, prognosis, and reproductive options<br><\/li>\n<\/ul>\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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Severe_or_Classical_RCDP3\"><\/span><strong>Severe or Classical RCDP3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Children with classical RCDP3 often experience significant health complications and typically do not survive beyond the first decade of life, with respiratory infections and related complications being the most common causes of death.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Milder_RCDP3\"><\/span><strong>Milder RCDP3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Individuals with less severe mutations, or those retaining some plasmalogen activity, may survive into adolescence or adulthood. Some achieve limited speech and independent movement. However, prognosis varies and does not always correlate with the degree of plasmalogen deficiency. Environmental and additional genetic factors may influence outcomes.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.7759\/cureus.20543\">Shawli, Aiman M., et al. \u2018A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report\u2019. <em>Cureus<\/em>, Dec. 2021. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.7759\/cureus.20543.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/jimd.12349\">Fallatah, Wedad, et al. \u2018Clinical, Biochemical, and Molecular Characterization of Mild (Nonclassic) Rhizomelic Chondrodysplasia Punctata\u2019. <em>Journal of Inherited Metabolic Disease<\/em>, vol. 44, no. 4, July 2021, pp. 1021\u201338. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1002\/jimd.12349.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/humu.21623\">Itzkovitz, Brandon, et al. \u2018Functional Characterization of Novel Mutations in GNPAT and AGPS, Causing Rhizomelic Chondrodysplasia Punctata (RCDP) Types 2 and 3\u2019. <em>Human Mutation<\/em>, vol. 33, no. 1, Jan. 2012, pp. 189\u201397. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1002\/humu.21623.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-021-01889-z\">Luisman, T., Smith, T., Ritchie, S. <em>et al.<\/em> Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata. <em>Orphanet J Rare Dis<\/em> <strong>16<\/strong>, 300 (2021). https:\/\/doi.org\/10.1186\/s13023-021-01889-z<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u8edf\u9aa8\u7570\u5f62\u6210\u70b9\u72b6\u75c7, RCDP3, AGPS\u6b20\u640d\u75c7, \u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u6b20\u640d, \u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u75c5, \u9aa8\u5f62\u6210\u7570\u5e38, \u767d\u5185\u969c, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-recessive-genetics-support\/\">\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/a>, \u8102\u8cea\u4ee3\u8b1d\u7570\u5e38, \u70b9\u72b6\u9aa8\u7aef\u7570\u5f62\u6210, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>, \u767a\u9054\u9045\u6ede, \u547c\u5438\u969c\u5bb3, \u795e\u7d4c\u767a\u9054\u969c\u5bb3, \u907a\u4f1d\u5b50\u8a3a\u65ad, \u652f\u63f4\u7684\u7642\u6cd5<\/sup><\/sup><\/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  \"@type\": \"MedicalCondition\",\n  \"name\": \"\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u30bf\u30a4\u30d73\",\n  \"alternateName\": \"Rhizomelic Chondrodysplasia Punctata Type 3\",\n  \"description\": 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","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-111832","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\/111832","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=111832"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111832\/revisions"}],"predecessor-version":[{"id":111862,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111832\/revisions\/111862"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=111832"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=111832"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=111832"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}