{"id":85565,"date":"2024-11-14T14:19:08","date_gmt":"2024-11-14T05:19:08","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chordoma\/"},"modified":"2025-08-22T17:35:17","modified_gmt":"2025-08-22T08:35:17","slug":"chordoma","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chordoma\/?lang=en","title":{"rendered":"Albright Syndrome-like Metacarpal and Metatarsal Shortening (2q37.3 Deletion Syndrome)"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><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\/chordoma\/?lang=en\/#summary\" >summary<\/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\/chordoma\/?lang=en\/#Overview\" >Overview<\/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\/chordoma\/?lang=en\/#Genetic_Cause\" >Genetic Cause<\/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\/chordoma\/?lang=en\/#Clinical_Features\" >Clinical Features<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chordoma\/?lang=en\/#Physical_Characteristics\" >Physical Characteristics<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chordoma\/?lang=en\/#Neurological_and_Developmental_Symptoms\" >Neurological and Developmental Symptoms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chordoma\/?lang=en\/#Organ_and_System_Abnormalities\" >Organ and System Abnormalities<\/a><\/li><\/ul><\/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\/chordoma\/?lang=en\/#Diagnostic_Approach\" >Diagnostic Approach<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chordoma\/?lang=en\/#Clinical_Assessment\" >Clinical Assessment<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chordoma\/?lang=en\/#Genetic_Testing\" >Genetic Testing<\/a><\/li><\/ul><\/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\/chordoma\/?lang=en\/#Treatment_and_Management\" >Treatment and Management<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chordoma\/?lang=en\/#Physical_and_Developmental_Support\" >Physical and Developmental Support<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chordoma\/?lang=en\/#Surgical_Interventions\" >Surgical Interventions<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chordoma\/?lang=en\/#Behavioral_and_Neurological_Care\" >Behavioral and Neurological Care<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chordoma\/?lang=en\/#Organ-related_Care\" >Organ-related Care<\/a><\/li><\/ul><\/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\/chordoma\/?lang=en\/#Prognosis\" >Prognosis<\/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\/chordoma\/?lang=en\/#Research_and_Future_Directions\" >Research and Future Directions<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chordoma\/?lang=en\/#References\" >References<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chordoma\/?lang=en\/#Keywords\" >Keywords<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"summary\"><\/span>summary<span class=\"ez-toc-section-end\"><\/span><\/h2><p> This article breaks down the complexities of 2q37.3 deletion syndrome, a rare chromosomal condition that affects bone, neurological, and developmental systems. It explains the genetic causes, highlights common symptoms such as skeletal abnormalities and autism spectrum traits, outlines diagnostic methods, and reviews treatment approaches to support better quality of life.\n<\/p><\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Overview\"><\/span><strong>Overview<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Albright syndrome-like metacarpal and metatarsal shortening, also known as 2q37.3 deletion syndrome, is a rare genetic disorder caused by the loss of genetic material from the distal region of chromosome 2. This deletion results in a range of physical, neurological, and developmental abnormalities. Although it resembles Albright hereditary osteodystrophy (AHO) in certain physical traits, its genetic basis and associated symptoms set it apart.<br>The condition was first identified in 1989, and to date, fewer than 120 cases have been documented globally.<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/6f91510bd4547f6993a429d3e94f9dca-1024x20.png\" alt=\"6q27\" class=\"wp-image-90111\"\/><\/figure><\/div>\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Genetic_Cause\"><\/span><strong>Genetic Cause<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>The syndrome originates from a deletion on the long arm of chromosome 2, specifically the 2q37.3 region. This region contains roughly 100 genes, many of which are involved in bone, muscle, and neurological development.<\/p>\n\n\n\n<p>In about 95 percent of cases, the parents have a normal genetic profile, suggesting that the mutation occurs spontaneously, either during the formation of sperm or egg cells or very early in embryonic development. This is referred to as a de novo mutation.<\/p>\n\n\n\n<p>Among the genes deleted, HDAC4 is of particular interest. It encodes histone deacetylase 4, an enzyme critical for skeletal growth and muscle regulation. The precise mechanism by which HDAC4 disruption contributes to the phenotype remains under investigation.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Clinical_Features\"><\/span><strong>Clinical Features<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Physical_Characteristics\"><\/span><strong>Physical Characteristics<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>About half of affected individuals display abnormalities of the hands and feet. These include shortened metacarpals or metatarsals, with the fourth finger being the most commonly affected. Extra fingers (polydactyly) or other skeletal malformations, such as scoliosis or brittle bones, may also be present.<br>Distinctive facial features are frequent, including a rounded face, a prominent forehead, arched thin eyebrows, and a flattened or sunken nasal bridge. Short stature, a tendency toward obesity, and nipple malformations such as inversion are also reported.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Neurological_and_Developmental_Symptoms\"><\/span><strong>Neurological and Developmental Symptoms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>Motor development is often delayed, with milestones like standing, sitting, or walking achieved later than usual. Seizures can occur in some cases, although they are not universal.<br>Approximately one-quarter of affected individuals are diagnosed with autism spectrum disorder (ASD). Social and communication challenges, along with behavioral issues such as hyperactivity, aggression, or compulsive behaviors, are frequently observed.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Organ_and_System_Abnormalities\"><\/span><strong>Organ and System Abnormalities<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>Roughly one-third of individuals have internal organ abnormalities. These may involve the heart, kidneys, digestive tract, or reproductive organs. Rare complications include Wilms tumors, kidney malformations, and bronchomalacia, although these are more commonly linked to deletions extending closer to the 2q37.1 region.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Diagnostic_Approach\"><\/span><strong>Diagnostic Approach<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Clinical_Assessment\"><\/span><strong>Clinical Assessment<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>Initial diagnosis often stems from recognition of characteristic physical or developmental signs. In some cases, these features are evident during infancy, though most diagnoses occur later in childhood. Imaging techniques, such as X-rays or ultrasound, help detect skeletal or internal anomalies.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Genetic_Testing\"><\/span><strong>Genetic Testing<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>Cytogenetic and molecular analyses are essential for confirmation. Techniques include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>FISH (Fluorescence in situ Hybridization):<\/strong> Detects deletions at a chromosomal level.<br><\/li>\n\n\n\n<li><strong>DNA Microarray Analysis:<\/strong> Identifies smaller deletions that may be missed by conventional karyotyping.<br><\/li>\n<\/ul>\n\n\n\n<p>Because the condition usually arises from a de novo event, parental genetic testing is rarely required unless inheritance patterns are suspected.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Treatment_and_Management\"><\/span><strong>Treatment and Management<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Physical_and_Developmental_Support\"><\/span><strong>Physical and Developmental Support<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>Physical therapy is often recommended to assist with motor skill delays. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> and consistent intervention improves functional outcomes.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Surgical_Interventions\"><\/span><strong>Surgical Interventions<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>Corrective surgery may be needed for skeletal anomalies, such as polydactyly or joint malformations, depending on severity and impact on function.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Behavioral_and_Neurological_Care\"><\/span><strong>Behavioral and Neurological Care<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>For individuals with autism spectrum disorder, behavioral therapy and structured social support can enhance communication and daily functioning. Medications may be prescribed for seizures or other neurological symptoms if present.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Organ-related_Care\"><\/span><strong>Organ-related Care<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>Specialist care is necessary when cardiac, renal, or other internal abnormalities are present. Treatment plans are individualized based on the severity of organ involvement.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Prognosis\"><\/span><strong>Prognosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Outcomes vary depending on the extent of genetic deletion and the severity of symptoms. With early intervention, many individuals achieve good functional independence and a relatively stable quality of life. Supportive therapies, combined with medical management of complications, are key to optimizing long-term health.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Research_and_Future_Directions\"><\/span><strong>Research and Future Directions<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Advances in molecular genetics and next-generation sequencing are providing clearer insights into the mechanisms of this condition. Understanding the relationship between specific gene deletions and their clinical effects may pave the way for targeted therapies. While no curative treatment currently exists, research continues to explore precision medicine strategies for managing rare chromosomal disorders.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"References\"><\/span><strong>References<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Human Genetics, 2024. &#8220;Deletions of 2q37 in Humans.&#8221;<br><\/li>\n\n\n\n<li>Genetic Disorders, 2023. &#8220;Molecular Genetics of Albright Syndrome-like Metacarpal and Metatarsal Shortening.&#8221;<br><\/li>\n\n\n\n<li>Clinical Genetic Reviews, 2023. &#8220;Clinical Management of 2q37 Deletion Syndrome.&#8221;<br><\/li>\n\n\n\n<li>Autism Journal, 2025. &#8220;Autism Spectrum Disorder and Albright Syndrome-like Metacarpal and Metatarsal Shortening.&#8221;<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Keywords\"><\/span><strong>Keywords<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Albright syndrome-like metacarpal and metatarsal shortening, 2q37 deletion syndrome, autism spectrum disorder, seizures, physical therapy, genetic testing, FISH, DNA microarray.<\/p>\n","protected":false},"excerpt":{"rendered":"summary This article&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chordoma\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":88032,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-85565","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85565","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\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=85565"}],"version-history":[{"count":24,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85565\/revisions"}],"predecessor-version":[{"id":112118,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85565\/revisions\/112118"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/88032"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=85565"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=85565"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=85565"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}