{"id":111808,"date":"2025-07-07T09:56:18","date_gmt":"2025-07-07T00:56:18","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/"},"modified":"2025-10-16T12:11:18","modified_gmt":"2025-10-16T03:11:18","slug":"roberts-syndrome-esco2-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?lang=en","title":{"rendered":"\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\uff08ESCO2\u95a2\u9023\u30b3\u30d2\u30fc\u30b7\u30ce\u30d1\u30c1\u30fc\uff09\u3010ESCO2\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_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\/roberts-syndrome-esco2-overview\/?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\/roberts-syndrome-esco2-overview\/?lang=en\/#Roberts_Syndrome_Overview\" >Roberts Syndrome Overview<\/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\/roberts-syndrome-esco2-overview\/?lang=en\/#The_ESCO2_Gene\" >The ESCO2 Gene<\/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\/roberts-syndrome-esco2-overview\/?lang=en\/#Location_and_Function\" >Location and Function<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?lang=en\/#Disease_Characteristics\" >Disease Characteristics<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?lang=en\/#Genetic_Basis\" >Genetic Basis<\/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\/roberts-syndrome-esco2-overview\/?lang=en\/#Key_Clinical_Features\" >Key Clinical Features<\/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\/roberts-syndrome-esco2-overview\/?lang=en\/#Related_Conditions\" >Related Conditions<\/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\/roberts-syndrome-esco2-overview\/?lang=en\/#Cellular_and_Molecular_Mechanisms\" >Cellular and Molecular Mechanisms<\/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\/roberts-syndrome-esco2-overview\/?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-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?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\/roberts-syndrome-esco2-overview\/?lang=en\/#Growth\" >Growth<\/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\/roberts-syndrome-esco2-overview\/?lang=en\/#Limbs\" >Limbs<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?lang=en\/#Facial_Features\" >Facial Features<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?lang=en\/#Neurological\" >Neurological<\/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\/roberts-syndrome-esco2-overview\/?lang=en\/#Vision_and_Hearing\" >Vision and Hearing<\/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\/roberts-syndrome-esco2-overview\/?lang=en\/#Cardiac\" >Cardiac<\/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\/roberts-syndrome-esco2-overview\/?lang=en\/#Genitourinary\" >Genitourinary<\/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\/roberts-syndrome-esco2-overview\/?lang=en\/#Skin_and_Other_Findings\" >Skin and Other Findings<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?lang=en\/#Testing_and_Diagnosis\" >Testing and Diagnosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?lang=en\/#Molecular_Testing\" >Molecular Testing<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?lang=en\/#Cytogenetic_Analysis\" >Cytogenetic Analysis<\/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\/roberts-syndrome-esco2-overview\/?lang=en\/#Prenatal_Testing\" >Prenatal Testing<\/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\/roberts-syndrome-esco2-overview\/?lang=en\/#Treatment_and_Management\" >Treatment and Management<\/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\/roberts-syndrome-esco2-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-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?lang=en\/#Differential_Diagnosis_and_Genetic_Interpretation\" >Differential Diagnosis and Genetic Interpretation<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?lang=en\/#Support_for_Families_and_Caregivers\" >Support for Families and Caregivers<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?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-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?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    <div>\n  <p>\n    Roberts syndrome is an extremely rare genetic condition that affects growth, limb development, and facial structures. This guide explains its genetic cause, clinical features, diagnostic methods, and current approaches to management, offering clear, scientifically grounded information for patients, families, and healthcare providers.\n\n  <\/p>\n<\/div>\n\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Roberts_Syndrome_Overview\"><\/span><strong>Roberts Syndrome Overview<\/strong><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>ESCO2<\/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\/ESCO2-hgtIdeo_genome_asia_37499f_724fb0-1024x26.png\" alt=\"ESCO2\" class=\"wp-image-103303\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Roberts syndrome, also known as ESCO2-related cohesinopathy, is a very rare genetic disorder caused by mutations in the ESCO2 gene. It primarily affects fetal growth and the proper development of limbs, facial structures, and, in some cases, internal organs. The condition is inherited in an autosomal recessive pattern, meaning both parents must carry the same genetic mutation for the child to be affected. Fewer than 150 cases have been documented worldwide, but the actual number is likely higher due to underdiagnosis and the variability of symptoms.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"The_ESCO2_Gene\"><\/span><strong>The ESCO2 Gene<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Location_and_Function\"><\/span><strong>Location and Function<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>The ESCO2 gene (Establishment of Sister Chromatid Cohesion N-Acetyltransferase 2) is located on the short arm of chromosome 8, position 21.1 (GRCh38: chr8:27,771,949\u201327,819,660). It encodes an enzyme made of 601 amino acids that plays a critical role in cell division.<\/p>\n\n\n\n<p>During the S phase of the cell cycle, when DNA is replicated, ESCO2 acetylates a protein called SMC3. This acetylation helps keep sister chromatids tightly connected until they are properly separated later in cell division. ESCO2 interacts closely with other cell cycle regulators such as PCNA (Proliferating Cell Nuclear Antigen) and the MCM helicase complex. Disruption of this process interferes with chromosome segregation, leading to developmental abnormalities.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Disease_Characteristics\"><\/span><strong>Disease Characteristics<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Genetic_Basis\"><\/span><strong>Genetic Basis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Roberts syndrome arises when mutations are present in both copies of the ESCO2 gene. As an autosomal recessive disorder, the chance of an affected child is 25% if both parents are carriers. The disease belongs to the group of disorders known as cohesinopathies, which share defects in chromosome cohesion during cell division.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Key_Clinical_Features\"><\/span><strong>Key Clinical Features<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Typical findings include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Severe growth restriction starting before birth<br><\/li>\n\n\n\n<li>Symmetric limb malformations, such as shortening of arms and legs<br><\/li>\n\n\n\n<li>Cleft lip and\/or palate<br><\/li>\n\n\n\n<li>Microcephaly (smaller-than-average head size)<br><\/li>\n\n\n\n<li>Chromosomal abnormalities known as the RS effect<br><\/li>\n<\/ul>\n\n\n\n<p>The RS effect refers to premature separation of centromeres or heterochromatin repulsion, observable under a microscope, and is considered a hallmark diagnostic sign.<\/p>\n\n\n\n<p>Severity varies widely. Some individuals exhibit profound physical differences and significant medical challenges at birth, while others have milder presentations that permit relatively typical development and longer life expectancy.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Related_Conditions\"><\/span><strong>Related Conditions<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Other disorders caused by ESCO2 mutations include SC phocomelia syndrome and Juberg-Hayward syndrome (JHS). These conditions share many clinical features with Roberts syndrome, including limb shortening, cleft lip or palate, and growth delays.<\/p>\n\n\n\n<p>JHS often presents with milder symptoms, and intellectual development can remain normal. It may also feature elbow joint fusion. Some researchers consider JHS a variant of Roberts syndrome, while others regard it as a separate condition, supported by studies such as Kantaputra et al. (2021). This variation highlights the importance of expert evaluation when ESCO2 mutations are identified, as clinical presentation alone may not fully define the diagnosis.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Cellular_and_Molecular_Mechanisms\"><\/span><strong>Cellular and Molecular Mechanisms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Roberts syndrome results from impaired cohesin function due to defective ESCO2. This leads to:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Premature separation of centromeres<br><\/li>\n\n\n\n<li>Heterochromatin repulsion<br><\/li>\n\n\n\n<li>Chromosomal instability<br><\/li>\n\n\n\n<li>Higher rates of aneuploidy (extra or missing chromosomes)<br><\/li>\n\n\n\n<li>Increased programmed cell death (apoptosis)<br><\/li>\n<\/ul>\n\n\n\n<p>Interestingly, the syndrome shares similarities with thalidomide embryopathy, a condition linked to the drug thalidomide. Research suggests that thalidomide may suppress ESCO2 function, explaining the overlapping clinical features.<\/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>Roberts syndrome is extremely rare. Fewer than 150 cases have been described in medical literature, but underdiagnosis is suspected due to the variability in symptom severity and overlap with other disorders. Cases have been reported worldwide, with no known sex or racial preference. However, higher incidence is observed in families with consanguinity, and founder effects in certain populations have led to more frequent identification of specific mutations, such as c.505C&gt;T (p.Arg169Ter) in Colombia.<\/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<p>Symptoms usually appear before birth and are often evident at delivery. Severity ranges from life-threatening malformations to milder findings that may be overlooked until later in life.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Growth\"><\/span><strong>Growth<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Intrauterine growth restriction<br><\/li>\n\n\n\n<li>Small birth size<br><\/li>\n\n\n\n<li>Continued growth delays after birth<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Limbs\"><\/span><strong>Limbs<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Symmetrical limb shortening, often mesomelic (middle portion of limbs)<br><\/li>\n\n\n\n<li>Severe shortening or absence of limbs (tetraphocomelia)<br><\/li>\n\n\n\n<li>Underdeveloped or absent thumbs<br><\/li>\n\n\n\n<li>Reduced numbers of fingers (oligodactyly)<br><\/li>\n\n\n\n<li>Curved little fingers (clinodactyly)<br><\/li>\n\n\n\n<li>Joint stiffness or contractures<br><\/li>\n\n\n\n<li>Clubfoot (talipes equinovarus)<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Facial_Features\"><\/span><strong>Facial Features<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Cleft lip and palate, often bilateral<br><\/li>\n\n\n\n<li>Microcephaly and micrognathia (small jaw)<br><\/li>\n\n\n\n<li>Flat cheekbones (zygomatic hypoplasia)<br><\/li>\n\n\n\n<li>Beak-like nose or underdeveloped nostrils<br><\/li>\n\n\n\n<li>Downward slant of the eyes<br><\/li>\n\n\n\n<li>Wide-set or protruding eyes<br><\/li>\n\n\n\n<li>Small, low-set, or rotated ears<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Neurological\"><\/span><strong>Neurological<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Intellectual disability (ranging from mild to severe), though some individuals have typical intellectual development<br><\/li>\n\n\n\n<li>Hydrocephalus or exencephaly in severe cases<br><\/li>\n\n\n\n<li>Rare neurological complications such as cranial nerve palsy or moyamoya disease<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Vision_and_Hearing\"><\/span><strong>Vision and Hearing<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Corneal opacity<br><\/li>\n\n\n\n<li>Small eyes (microphthalmia)<br><\/li>\n\n\n\n<li>Cataracts or colobomas<br><\/li>\n\n\n\n<li>Hearing loss<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Cardiac\"><\/span><strong>Cardiac<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Congenital heart defects, including VSD, ASD, or PDA<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Genitourinary\"><\/span><strong>Genitourinary<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Kidney malformations, such as horseshoe kidneys or polycystic kidneys<br><\/li>\n\n\n\n<li>Cryptorchidism or hypospadias in males<br><\/li>\n\n\n\n<li>Genital anomalies in females, such as clitoral hypertrophy or uterine malformations<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Skin_and_Other_Findings\"><\/span><strong>Skin and Other Findings<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Sparse or light-colored hair<br><\/li>\n\n\n\n<li>Hemangiomas<br><\/li>\n\n\n\n<li>Caf\u00e9-au-lait spots or areas of hypopigmentation<br><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Testing_and_Diagnosis\"><\/span><strong>Testing and Diagnosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Diagnosis involves both genetic and cytogenetic evaluation.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Molecular_Testing\"><\/span><strong>Molecular Testing<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Genetic sequencing, such as Sanger or exome sequencing, identifies ESCO2 mutations. Large deletions or duplications may require specialized copy number analysis.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Cytogenetic_Analysis\"><\/span><strong>Cytogenetic Analysis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Microscopic chromosome studies reveal the RS effect, including premature centromere separation and heterochromatin repulsion.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Prenatal_Testing\"><\/span><strong>Prenatal Testing<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Severe limb shortening, growth restriction, or cleft lip and palate detected by ultrasound may prompt genetic testing for confirmation.<\/p>\n\n\n\n<h2 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><\/h2>\n\n\n\n<p>There is no cure for Roberts syndrome. Management focuses on symptoms and improving quality of life, requiring a multidisciplinary approach. This often includes:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Surgery for cleft lip or palate and skeletal deformities<br><\/li>\n\n\n\n<li>Physical, occupational, and speech therapy<br><\/li>\n\n\n\n<li>Vision and hearing assessments with tailored interventions<br><\/li>\n\n\n\n<li>Monitoring and care for cardiac and renal conditions<br><\/li>\n\n\n\n<li>Infection prevention, particularly in newborns with facial malformations<br><\/li>\n\n\n\n<li>Genetic counseling for families, including options for prenatal or preimplantation testing in future pregnancies<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<p>Outcomes vary significantly based on the severity of symptoms and organ involvement.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Severe cases may lead to significant complications before or shortly after birth, sometimes requiring immediate intensive care.<br><\/li>\n\n\n\n<li>Milder cases allow for near-typical development with support, and some individuals live independent lives with normal intellectual function.<br><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Differential_Diagnosis_and_Genetic_Interpretation\"><\/span><strong>Differential Diagnosis and Genetic Interpretation<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Detection of an ESCO2 mutation does not automatically confirm Roberts syndrome. Some variants may result in milder phenotypes or be associated with related conditions such as Juberg-Hayward syndrome. Proper interpretation requires input from genetic specialists to avoid misclassification and to guide accurate counseling and care.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Support_for_Families_and_Caregivers\"><\/span><strong>Support for Families and Caregivers<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Although Roberts syndrome can be overwhelming at the time of diagnosis, early intervention, therapy, and support significantly improve outcomes. Many children grow up to attend school and participate in family and community life. Some individuals remain undiagnosed until adulthood, particularly in milder cases. Access to knowledgeable medical teams and support networks helps families navigate both the medical and emotional challenges of the condition.<\/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\/10.1093\/ejo\/cjaa023\">Kantaputra, P. N., Dejkhamron, P., Intachai, W., Ngamphiw, C., Kawasaki, K., Ohazama, A., Krisanaprakornkit, S., Olsen, B., Tongsima, S., &amp; Ketudat Cairns, J. R. (2021). Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2. European journal of orthodontics, 43(1), 45\u201350. https:\/\/doi.org\/10.1093\/ejo\/cjaa023<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/omim.org\/entry\/609353\">Online Mendelian Inheritance in Man (OMIM). (2021, July 9). ESTABLISHMENT OF SISTER CHROMATID COHESION N-ACETYLTRANSFERASE 2; ESCO2 (MIM# 609353). Edited by Bao Lige and mgross. Originally created by Victor A. McKusick on May 4, 2005. Retrieved from https:\/\/omim.org\/entry\/609353<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ejmg.2018.12.013\">Sezer, A., Kayhan, G., Zenker, M., &amp; Percin, E. F. (2019). Hypopigmented patches in Roberts\/SC phocomelia syndrome occur via aneuploidy susceptibility. European journal of medical genetics, 62(12), 103608. https:\/\/doi.org\/10.1016\/j.ejmg.2018.12.013<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad533\">Fu, J., Zhou, S., Xu, H., Liao, L., Shen, H., Du, P., &amp; Zheng, X. (2023). ATM-ESCO2-SMC3 axis promotes 53BP1 recruitment in response to DNA damage and safeguards genome integrity by stabilizing cohesin complex. Nucleic acids research, 51(14), 7376\u20137391. https:\/\/doi.org\/10.1093\/nar\/gkad533<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1153\/\">Vega H, Gordillo M, Jabs EW. ESCO2 Spectrum Disorder. 2006 Apr 18 [Updated 2020 Mar 26]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1153\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s12885-024-12213-w\">Huang, Y., Chen, D., Bai, Y., Zhang, Y., Zheng, Z., Fu, Q., Yi, B., Jiang, Y., Zhang, Z., &amp; Zhu, J. (2024). ESCO2&#8217;s oncogenic role in human tumors: a pan-cancer analysis and experimental validation. BMC cancer, 24(1), 452. https:\/\/doi.org\/10.1186\/s12885-024-12213-w<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s10577-023-09711-1\">Jevitt, A. M., Rankin, B. D., Chen, J., &amp; Rankin, S. (2023). The cohesin modifier ESCO2 is stable during DNA replication. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology, 31(1), 6. https:\/\/doi.org\/10.1007\/s10577-023-09711-1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/pd.6069\">Stevens, Blair K., et al. \u2018Utility of Expanded Carrier Screening in Pregnancies with Ultrasound Abnormalities\u2019. Prenatal Diagnosis, vol. 42, no. 1, Jan. 2022, pp. 60\u201378. DOI.org (Crossref), https:\/\/doi.org\/10.1002\/pd.6069.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41598-019-47739-8\">Gomes, J.d.A., Kowalski, T.W., Fraga, L.R. et al. The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis. Sci Rep 9, 11413 (2019). https:\/\/doi.org\/10.1038\/s41598-019-47739-8<\/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>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4,ESCO2,\u30b3\u30d2\u30fc\u30b7\u30ce\u30d1\u30c1\u30fc\uff08cohesinopathy\uff09,\u67d3\u8272\u5206\u4f53\u306e\u7d50\u5408,SMC3,\u30a2\u30bb\u30c1\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc, \u65e9\u671f\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u5206\u96e2,\u30d8\u30c6\u30ed\u30af\u30ed\u30de\u30c1\u30f3\u53cd\u767a,\u56db\u80a2\u6b20\u640d,\u30e1\u30bd\u30e1\u30ea\u30c3\u30af\u77ed\u7e2e,\u53e3\u5507\u53e3\u84cb\u88c2, \u982d\u84cb\u9854\u9762\u7570\u5e38,<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>,<a 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