{"id":16703,"date":"2026-04-22T09:59:11","date_gmt":"2026-04-22T12:59:11","guid":{"rendered":"https:\/\/www.grupomedcof.com.br\/blog\/?p=16703"},"modified":"2026-04-22T10:05:25","modified_gmt":"2026-04-22T13:05:25","slug":"sindrome-cornelia-de-lange","status":"publish","type":"post","link":"https:\/\/www.grupomedcof.com.br\/blog\/sindrome-cornelia-de-lange\/","title":{"rendered":"S\u00edndrome Corn\u00e9lia de Lange: o que \u00e9, epidemiologia e diagn\u00f3stico"},"content":{"rendered":"\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2023\/12\/Blog-MedCof-45-1024x576.png\" alt=\"s\u00edndrome corn\u00e9lia de lange, s\u00edndrome corn\u00e9lia de lange fotos, cornelia de lange sindrome, sindrome de cornelia, s\u00edndrome de cornelia de lange, s\u00edndrome cornelia de lange comportamento,\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">A <strong>S\u00edndrome Corn\u00e9lia de Lange (SCDL)<\/strong> \u00e9 uma desordem gen\u00e9tica rara que resulta de m\u00faltiplas anomalias cong\u00eanitas, causando m\u00faltiplas malforma\u00e7\u00f5es (atraso no crescimento psicomotor, altera\u00e7\u00f5es card\u00edacas, gastrointestinais, musculoesquel\u00e9tica e f\u00e1cies t\u00edpicas).<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-epidemiologia-e-causas\"><strong>Epidemiologia e causas<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">A <strong>S\u00edndrome Corn\u00e9lia de Lange<\/strong> \u00e9 causada pela muta\u00e7\u00e3o de genes que estruturam e\/ou regulam o complexo da coesina, alterando, assim, <strong>a coes\u00e3o cromat\u00eddica, o reparo do DNA e a express\u00e3o g\u00eanica.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Cerca de 99% dos casos tem ocorr\u00eancia espor\u00e1dica e poucos foram associados a um padr\u00e3o de transmiss\u00e3o autoss\u00f4mico dominante. <strong>Estima-se a preval\u00eancia entre 1 a cada 10 a 30.000 nascidos vivos.<\/strong> Essa preval\u00eancia \u00e9 incerta devido \u00e0 heterogeneidade do fen\u00f3tipo, dificultando o diagn\u00f3stico.<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2023\/12\/Blog-MedCof-43-e1703076873255-1024x128.png\" alt=\"s\u00edndrome corn\u00e9lia de lange, s\u00edndrome corn\u00e9lia de lange fotos, cornelia de lange sindrome, sindrome de cornelia, s\u00edndrome de cornelia de lange, s\u00edndrome cornelia de lange comportamento,\"\/><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-alteracoes-gestacionais\"><strong>Altera\u00e7\u00f5es gestacionais<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Em alguns casos, pode-se identificar restri\u00e7\u00e3o do crescimento intrauterino, h\u00e9rnia diafragm\u00e1tica, hipoplasia de antebra\u00e7os, m\u00e3os subdesenvolvidas e dismorfismo facial t\u00edpico.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-alteracoes-clinicas\"><strong>Altera\u00e7\u00f5es cl\u00ednicas<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">As principais altera\u00e7\u00f5es cl\u00ednicas incluem&nbsp;<strong>dismorfismos faciais,&nbsp;altera\u00e7\u00f5es em membros superiores&nbsp;e retardo no crescimento<\/strong>, inclusive podendo causar restri\u00e7\u00e3o de crescimento intrauterino.<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2023\/12\/Untitled-2.png\" alt=\"s\u00edndrome corn\u00e9lia de lange, s\u00edndrome corn\u00e9lia de lange fotos, cornelia de lange sindrome, sindrome de cornelia, s\u00edndrome de cornelia de lange, s\u00edndrome cornelia de lange comportamento,\"\/><figcaption class=\"wp-element-caption\">(Fonte: SOUZA et al, 2020)<\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">A <strong>demora&nbsp;no crescimento<\/strong> \u00e9 identificada atrav\u00e9s de baixo peso, estatura e per\u00edmetro cef\u00e1lico adequados para a idade. J\u00e1 o <strong>atraso no desenvolvimento<\/strong> \u00e9 considerado moderado nos primeiros marcos do desenvolvimento, associado a atraso importante na fala e retardo mental leve a moderado.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Dentre as <strong>altera\u00e7\u00f5es comportamentais,<\/strong> podemos identificar hiperatividade, tend\u00eancia a auto-inj\u00faria, agressividade e dist\u00farbios do sono.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Al\u00e9m disso, alguns pacientes podem apresentar <strong>crises convulsivas.<\/strong><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Crit\u00e9rios diagn\u00f3sticos e sintomas<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Diagn\u00f3stico confirmado na presen\u00e7a de, <strong>pelo menos<\/strong>, um fator:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Muta\u00e7\u00e3o positiva<\/strong> no teste gen\u00e9tico (genes NIPBL e SMC1A).<\/li>\n\n\n\n<li><strong>Dismorfismo facial<\/strong> + \u2265 3 crit\u00e9rios de outra categoria, sendo 1de crescimento, desenvolvimento ou comportamento e 2 de outros crit\u00e9rios.<\/li>\n\n\n\n<li><strong>Dismorfismo facial<\/strong> + \u2265 2 crit\u00e9rios das categorias de crescimento, desenvolvimento ou comportamento.<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"h-dismorfismo-facial\"><strong>Dismorfismo facial<\/strong><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\">Sobrancelhas confluentes + \u2265 3:<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>C\u00edlios longos.<\/li>\n\n\n\n<li>Nariz curto com narinas antevertidas.<\/li>\n\n\n\n<li>Filtro nasal longo e proeminente.<\/li>\n\n\n\n<li>Ponte nasal ampla ou deprimida.<\/li>\n\n\n\n<li>Bochechas quadradas ou pequenas.<\/li>\n\n\n\n<li>Palato alto.<\/li>\n\n\n\n<li>Dentes ausentes ou amplamente espa\u00e7ados.<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">Crescimento &#8211; \u2265 2:<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Peso abaixo do 5\u00ba percentil para idade.<\/li>\n\n\n\n<li>Altura ou comprimento abaixo do 5\u00ba percentil para idade.<\/li>\n\n\n\n<li>Per\u00edmetro cef\u00e1lico abaixo do 5\u00ba percentil para idade.<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">Desenvolvimento- \u2265 1:<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Atraso no desenvolvimento ou retardo mental.<\/li>\n\n\n\n<li>Defici\u00eancias de aprendizado.<\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2023\/07\/Blog-MedCof-2023-07-06T091657.858-1024x164.png\" alt=\"medcof qbank, medcof aulas, grupo medcof, aulas medcof, qbank, banco de questoes medcof, medcof banco de questoes\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.grupomedcof.com.br\/blog\/qbank-medcof\/\" target=\"_blank\" rel=\"noreferrer noopener\"><br><\/a>Comportamento &#8211; \u2265 2:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>TDAH.<\/li>\n\n\n\n<li>Caracter\u00edsticas obssessivo-compulsivas.<\/li>\n\n\n\n<li>Ansiedade.<\/li>\n\n\n\n<li>Deambula\u00e7\u00e3o constante.<\/li>\n\n\n\n<li>Agressividade.<\/li>\n\n\n\n<li>Les\u00f5es de autoinj\u00faria.<\/li>\n\n\n\n<li>Timidez excessiva.<\/li>\n\n\n\n<li>Caracter\u00edsticas semelhantes ao autismo.<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>Caracter\u00edsticas Musculoesel\u00e9ticas<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Defeitos de redu\u00e7\u00e3o com antebra\u00e7os ausentes <strong>ou<\/strong> m\u00e3os <strong>e<\/strong> p\u00e9s pequenos <strong>ou<\/strong> oligodactilia e \u22651 dos seguintes <strong>ou<\/strong> nenhum desses com \u22653 dos seguintes:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Clinodactilia do 5\u00ba quirod\u00e1ctilo.<\/li>\n\n\n\n<li>Praga palmar anormal.<\/li>\n\n\n\n<li>Deslocamento da cabe\u00e7a do r\u00e1dio.<\/li>\n\n\n\n<li>Extens\u00e3o anormal do cotovelo.<\/li>\n\n\n\n<li>1\u00ba metacarpo encurtado.<\/li>\n\n\n\n<li>Polegar implantado proximalmente.<\/li>\n\n\n\n<li>H\u00e1lux vaalgo.<\/li>\n\n\n\n<li>Escoliose.<\/li>\n\n\n\n<li>Pectus excavatum.<\/li>\n\n\n\n<li>Luxa\u00e7\u00e3o ou displasia de quadril.<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>Caracter\u00edsticas Neurol\u00f3gicas\/Cut\u00e2neas &#8211; \u22653:<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Ptose.<\/li>\n\n\n\n<li>Malforma\u00e7\u00e3o do ducto lacrimal ou blefarite.<\/li>\n\n\n\n<li>Miopia.<\/li>\n\n\n\n<li>Malforma\u00e7\u00e3o ocular ou pigmenta\u00e7\u00e3o peripapilar.<\/li>\n\n\n\n<li>Surdez ou perda auditiva.<\/li>\n\n\n\n<li>Convuls\u00f5es.<\/li>\n\n\n\n<li>Cutis marmorata.<\/li>\n\n\n\n<li>Hirsutismo generalizado.<\/li>\n\n\n\n<li>Mamilos pequenos e\/ou umbilicus.<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>Outras malforma\u00e7\u00f5es &#8211; \u22653:<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Malforma\u00e7\u00e3o ou m\u00e1 rota\u00e7\u00e3o do TGI.<\/li>\n\n\n\n<li>H\u00e9rnia diafragm\u00e1tica.<\/li>\n\n\n\n<li>DRGE.<\/li>\n\n\n\n<li>Fenda palatina ou fenda palatina submucosa.<\/li>\n\n\n\n<li>Cardiopatia cong\u00eanita.<\/li>\n\n\n\n<li>Microp\u00eanis.<\/li>\n\n\n\n<li>Hiposp\u00e1dias.<\/li>\n\n\n\n<li>Criptorquidia.<\/li>\n\n\n\n<li>Malforma\u00e7\u00e3o do trato urin\u00e1rio ou renal.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Acompanhamento da S\u00edndrome Corn\u00e9lia de Lange<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>O acompanhamento deve ser realizado&nbsp;ambulatorialmente com equipe multiprofissional.<\/strong>&nbsp;Esses pacientes podem necessitar de interna\u00e7\u00e3o hospitalar devido \u00e0 dificuldade alimentar, em especial no come\u00e7o da vida, e para manejo das cardiopatias cong\u00eanitas.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Aconselhamento gen\u00e9tico<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Deve ser oferecido para todas as fam\u00edlias de crian\u00e7as com diagn\u00f3stico de S\u00edndrome Corn\u00e9lia de Lange. \u00c9 importante esse aconselhamento, pois, <strong>apesar da maioria dos casos serem espor\u00e1dicos, a transmiss\u00e3o familiar ocorre ocasionalmente com um padr\u00e3o autoss\u00f3mico dominante.&nbsp;<\/strong><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Conquiste sua aprova\u00e7\u00e3o com a MedCof!<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Se voc\u00ea quer ir al\u00e9m da prepara\u00e7\u00e3o tradicional, <strong>os preparat\u00f3rios da <a href=\"https:\/\/www.grupomedcof.com.br\/home\/\">MedCof<\/a> <\/strong>s\u00e3o desenvolvidos especificamente para quem busca aprova\u00e7\u00e3o em <strong>programas de resid\u00eancia m\u00e9dica.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">A metodologia combina:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Banco inteligente de quest\u00f5es<\/strong><\/li>\n\n\n\n<li><strong>An\u00e1lise de desempenho com uso de dados<\/strong><\/li>\n\n\n\n<li><strong>Estudo direcionado por incid\u00eancia de temas<\/strong><\/li>\n\n\n\n<li><strong>Treinamento focado no perfil da banca<\/strong><\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Isso permite que voc\u00ea estude com estrat\u00e9gia, priorizando o que realmente aumenta suas chances de aprova\u00e7\u00e3o \u2014 e n\u00e3o apenas acumulando conte\u00fado. Para entender melhor, <a href=\"http:\/\/grupomedcof.com.br\/home\/?page=sobre-nos\">conhe\u00e7a a MedCof<\/a>.<\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\n<iframe loading=\"lazy\" title=\"Tem coisas na medicina que n\u00e3o s\u00e3o sobre prova | SingularCast\" width=\"696\" height=\"392\" src=\"https:\/\/www.youtube.com\/embed\/Tqy4Efl6Qck?feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe>\n<\/div><\/figure>\n","protected":false},"excerpt":{"rendered":"<p>Confira sobre a S\u00edndrome Corn\u00e9lia de Lange: causas, sintomas, diagn\u00f3stico, dismorfismo facial e como \u00e9 feito o acompanhamento e aconselhamento gen\u00e9tico.<\/p>\n","protected":false},"author":6,"featured_media":16706,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[287,120],"tags":[109,108,578],"ppma_author":[3609],"class_list":["post-16703","post","type-post","status-publish","format-standard","has-post-thumbnail","category-destaques-medcof","category-pediatria","tag-pediatria","tag-residencia-em-pediatria","tag-sindrome-cornelia-de-lange"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.7 (Yoast SEO v27.7) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>S\u00edndrome Corn\u00e9lia de Lange: tudo o que voc\u00ea precisa saber<\/title>\n<meta name=\"description\" content=\"Saiba mais sobre a S\u00edndrome Corn\u00e9lia de Lange: causas, sintomas, diagn\u00f3stico, dismorfismo facial e o acompanhamento.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, 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