{"id":32901,"date":"2025-01-09T08:15:15","date_gmt":"2025-01-09T11:15:15","guid":{"rendered":"https:\/\/www.grupomedcof.com.br\/blog\/?p=32901"},"modified":"2026-04-24T17:10:56","modified_gmt":"2026-04-24T20:10:56","slug":"sindromes-geneticas","status":"publish","type":"post","link":"https:\/\/www.grupomedcof.com.br\/blog\/sindromes-geneticas\/","title":{"rendered":"S\u00edndromes Gen\u00e9ticas na Cl\u00ednica Pedi\u00e1trica: Guia"},"content":{"rendered":"<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_74 counter-hierarchy ez-toc-counter ez-toc-transparent ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Sum\u00e1rio<\/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=\"Alternar tabela de conte\u00fado\"><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.grupomedcof.com.br\/blog\/sindromes-geneticas\/#Sindrome_de_Down\" >S\u00edndrome de Down<\/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.grupomedcof.com.br\/blog\/sindromes-geneticas\/#Sindrome_de_Patau\" >S\u00edndrome de Patau&nbsp;<\/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.grupomedcof.com.br\/blog\/sindromes-geneticas\/#Sindrome_de_Turner\" >S\u00edndrome de Turner<\/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.grupomedcof.com.br\/blog\/sindromes-geneticas\/#Sindrome_de_Klinefelter\" >S\u00edndrome de Klinefelter<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/sindromes-geneticas\/#Sindrome_de_Edwards\" >S\u00edndrome de Edwards<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/sindromes-geneticas\/#Sindrome_de_Marfan\" >S\u00edndrome de Marfan<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/sindromes-geneticas\/#Sindrome_de_Noonan\" >S\u00edndrome de Noonan<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/sindromes-geneticas\/#Neurofibromatose_Tipo_1\" >Neurofibromatose Tipo 1<\/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.grupomedcof.com.br\/blog\/sindromes-geneticas\/#X_Fragil\" >X Fr\u00e1gil<\/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.grupomedcof.com.br\/blog\/sindromes-geneticas\/#Mucopolisacaridosis\" >Mucopolisacaridosis<\/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.grupomedcof.com.br\/blog\/sindromes-geneticas\/#Sindrome_de_Prader-Willi\" >S\u00edndrome de Prader-Willi<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/sindromes-geneticas\/#Seja_um_MedCoffer\" >Seja um MedCoffer<\/a><\/li><\/ul><\/nav><\/div>\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/01\/Blog-MedCof-50-1024x576.jpg\" alt=\"\" class=\"wp-image-32902\" srcset=\"https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/01\/Blog-MedCof-50-1024x576.jpg 1024w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/01\/Blog-MedCof-50-300x169.jpg 300w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/01\/Blog-MedCof-50-768x432.jpg 768w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/01\/Blog-MedCof-50-1536x864.jpg 1536w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/01\/Blog-MedCof-50-2048x1152.jpg 2048w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/01\/Blog-MedCof-50-747x420.jpg 747w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/01\/Blog-MedCof-50-150x84.jpg 150w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/01\/Blog-MedCof-50-696x392.jpg 696w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/01\/Blog-MedCof-50-1068x601.jpg 1068w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2025\/01\/Blog-MedCof-50-1920x1080.jpg 1920w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>O estudo das <strong>s\u00edndromes gen\u00e9ticas<\/strong> \u00e9 um campo fundamental na medicina, especialmente para residentes que buscam compreender as complexidades dos dist\u00farbios gen\u00e9ticos e suas manifesta\u00e7\u00f5es cl\u00ednicas. Ent\u00e3o, vamos ver um pouco sobre v\u00e1rias s\u00edndromes gen\u00e9ticas, destacando suas caracter\u00edsticas, diagn\u00f3sticos e abordagens de tratamento, com base nas diretrizes atuais.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-sindrome-de-down\"><span class=\"ez-toc-section\" id=\"Sindrome_de_Down\"><\/span><strong>S\u00edndrome de Down<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>A <strong>S\u00edndrome de Down<\/strong>, ou trissomia do cromossomo 21, \u00e9 uma das anomalias cromoss\u00f4micas mais comuns. Afeta aproximadamente <strong>1 em cada 600 a 1.000 nascidos<\/strong> vivos. As caracter\u00edsticas principais incluem hipotonia, perfil facial achatado, e prega palmar \u00fanica. Al\u00e9m disso, h\u00e1 um risco aumentado de comorbidades, como cardiopatias cong\u00eanitas e hipotireoidismo. O diagn\u00f3stico \u00e9 frequentemente cl\u00ednico, confirmado por cari\u00f3tipo e por sinais de Hall (pelo menos 4):\u00a0<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Perfil facial achatado;<\/li>\n\n\n\n<li>Reflexo de Moro diminu\u00eddo;<\/li>\n\n\n\n<li>Hipotonia;<\/li>\n\n\n\n<li>Hiperflexibilidade das articula\u00e7\u00f5es;&nbsp;<\/li>\n\n\n\n<li>Fendas palpebrais obl\u00edquas;&nbsp;<\/li>\n\n\n\n<li>Pele redundante na nuca;<\/li>\n\n\n\n<li>Displasia da pelve;<\/li>\n\n\n\n<li>Displasia da falange do 5\u00b0 quirod\u00e1ctilo;<\/li>\n\n\n\n<li>Orelhas pequenas e arredondadas;<\/li>\n\n\n\n<li>Prega palmar \u00fanica.<\/li>\n<\/ol>\n\n\n\n<p>A interven\u00e7\u00e3o precoce com reabilita\u00e7\u00e3o, fisioterapia e suporte educacional \u00e9 crucial para melhorar a qualidade de vida dos pacientes, j\u00e1 que o n\u00famero de comorbidades resultante da condi\u00e7\u00e3o \u00e9 alto, como cardiopatias, rea\u00e7\u00f5es leucemoides, policitemia, leucemia, mieloprolifera\u00e7\u00e3o transit\u00f3ria, entre outras).&nbsp;<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh7-rt.googleusercontent.com\/docsz\/AD_4nXeDqtNbaAYrgqecuOatCzutS7j1KGkAl7wvdxSvJfJRVU2lbi83XMOmi5I--C34X6XzDvqSvZWdO5MIhx_F6CQg4Xr1-nzcT1azRCm6vBiB96PxektU5sxX4qptjH7drTQpftE1Tw?key=xprSmHBETe7ifqL5Puw2RaKt\" alt=\"\"\/><figcaption class=\"wp-element-caption\">Fonte: DIRETRIZES DE ATEN\u00c7\u00c3O \u00c0 SA\u00daDE DE PESSOAS COM S\u00cdNDROME DE DOWN &#8211; SOCIEDADE BRASILEIRA DE PEDIATRIA &#8211; MAR\u00c7O\/2020.<\/figcaption><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-sindrome-de-patau-nbsp\"><span class=\"ez-toc-section\" id=\"Sindrome_de_Patau\"><\/span><strong>S\u00edndrome de Patau&nbsp;<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Caracterizada pela trissomia do cromossomo 13, a <strong>s\u00edndrome de Patau <\/strong>acomete <strong>1 entre 10 mil nascidos.<\/strong> A letalidade dela pode ser identificada precocemente e dentre os sintomas a principal tr\u00edade \u00e9 a Microftalmia, a Fenda Palatina e a Polidactilia, mas existem outros sintomas (como holoprosencefalia, unhas hipopl\u00e1sicas e malforma\u00e7\u00f5es card\u00edacas).<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh7-rt.googleusercontent.com\/docsz\/AD_4nXfJbJFHrCg4rGEaVCn6R8SZFhgV10sOYxO7Rbg_kFk0q82ib-NiT-mE5lZhYk5pZroiwtbttT2mfgNRa_iaMSG4uLtg74e8od4w5JATOb0i_irwXuOlo5krJNnotKZun-1ubHJVgQ?key=xprSmHBETe7ifqL5Puw2RaKt\" alt=\"\"\/><figcaption class=\"wp-element-caption\">Fonte:&nbsp;Ramsey, K. Wong, et al. \u201cMonozygotic twins discordant for trisomy 13.\u201d Journal of Perinatology 32.4 (2012): 306-308.<\/figcaption><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-sindrome-de-turner\"><span class=\"ez-toc-section\" id=\"Sindrome_de_Turner\"><\/span><strong>S\u00edndrome de Turner<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>A <strong><a href=\"https:\/\/www.grupomedcof.com.br\/blog\/diferencas-no-desenvolvimento-sexual-sindromes-de-turner-e-de-klinefelter\/\" target=\"_blank\" rel=\"noreferrer noopener\">S\u00edndrome de Turner<\/a><\/strong> \u00e9 caracterizada pela presen\u00e7a de um \u00fanico cromossomo X (45,X) e afeta cerca de 1 em 2.500 meninas. As manifesta\u00e7\u00f5es incluem baixa estatura, pesco\u00e7o alado e cardiopatias como coarcta\u00e7\u00e3o da aorta. Embora a intelig\u00eancia geralmente seja normal, problemas de aprendizado podem ocorrer. O tratamento envolve terapia com horm\u00f4nio de crescimento para melhorar a estatura e reposi\u00e7\u00e3o de estrog\u00eanio para o desenvolvimento sexual.<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh7-rt.googleusercontent.com\/docsz\/AD_4nXe_ooi8P-4g5678FjmHpNeRuhzjXGVedDKESlw2ymdSJUA5bJq-E1qxgx2u78c_ylUcdm3r9LVH2ldH99STpFkWyqiYFCAPjiY3vkh2trKi91a7GwfSV4Yg3J8I8WT9yyyQhD4O?key=xprSmHBETe7ifqL5Puw2RaKt\" alt=\"\"\/><figcaption class=\"wp-element-caption\">Fonte: <a href=\"https:\/\/pin.it\/6zmkvKT3R\">https:\/\/pin.it\/6zmkvKT3R<\/a>&nbsp;<\/figcaption><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-sindrome-de-klinefelter\"><span class=\"ez-toc-section\" id=\"Sindrome_de_Klinefelter\"><\/span><strong>S\u00edndrome de Klinefelter<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>A <strong><a href=\"https:\/\/www.grupomedcof.com.br\/blog\/diferencas-no-desenvolvimento-sexual-sindromes-de-turner-e-de-klinefelter\/\" target=\"_blank\" rel=\"noreferrer noopener\">S\u00edndrome de Klinefelter,<\/a><\/strong> resultante de um cromossomo X adicional nos homens (47,XXY), ocorre em cerca de 1 em 1.000 homens. Caracteriza-se por alta estatura, test\u00edculos pequenos e ginecomastia. Os pacientes podem apresentar dificuldades de aprendizado e problemas comportamentais. O tratamento inclui terapia de reposi\u00e7\u00e3o de testosterona, que ajuda a desenvolver caracter\u00edsticas sexuais secund\u00e1rias e melhora a densidade \u00f3ssea.<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh7-rt.googleusercontent.com\/docsz\/AD_4nXfjRuDQe6zrGE8JovwQc-60-Rz1sjQeBAn3MLFpI4ozxGnxvx2PDU_ukygGZPzkIYZ939-fPus1raHz7ckHCzPkR-MNnzV8yQWakzeNjQXT7G6Em0u_CNiXb0vbLQWnReQDAmkHeQ?key=xprSmHBETe7ifqL5Puw2RaKt\" alt=\"\"\/><figcaption class=\"wp-element-caption\">Fonte: Smyth, Cynthia M., and William J. Bremner. \u201cKlinefelter syndrome.\u201d Archives of internal medicine 158.12 (1998): 1309-1314.<\/figcaption><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-sindrome-de-edwards\"><span class=\"ez-toc-section\" id=\"Sindrome_de_Edwards\"><\/span><strong>S\u00edndrome de Edwards<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Tipo marcante de trissomias, afeta o cromossomo 13. A S\u00edndrome tem alta letalidade precoce, com muitas crian\u00e7as n\u00e3o sobrevivendo al\u00e9m do primeiro ano de vida. As caracter\u00edsticas incluem malforma\u00e7\u00f5es card\u00edacas, atraso no desenvolvimento e outras anomalias cong\u00eanitas. O manejo \u00e9 principalmente de suporte, focando na qualidade de vida. Fenotipicamente, identificamos microcefalia, fissuras palpebrais, nariz hipopl\u00e1sico, occip\u00edcio proeminente, fenda palatina, cardiopatias e osso esterno curto, entre outros achados.<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh7-rt.googleusercontent.com\/docsz\/AD_4nXdELvZe0DJKJCViP9b4XOpdg9lwaI7Stq9jP99Q-xTSYeeao2zEHT-AaZS-Edw0Tp-lPBn6p9hRHIOkm_Nt0j-YKwWl06hbp3hygSTO_JwecY9KbvByJ4f11L5g-xnTANF8-huTRw?key=xprSmHBETe7ifqL5Puw2RaKt\" alt=\"\"\/><figcaption class=\"wp-element-caption\">Fonte: https:\/\/images.app.goo.gl\/sNvfkXqfHy5Cu1Jf9<\/figcaption><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-sindrome-de-marfan\"><span class=\"ez-toc-section\" id=\"Sindrome_de_Marfan\"><\/span><strong>S\u00edndrome de Marfan<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>A S\u00edndrome de Marfan \u00e9 uma desordem do tecido conjuntivo autoss\u00f4mica dominante, causada por muta\u00e7\u00f5es no gene FBN1. Afeta aproximadamente 1 em 5.000 a 10.000 nascidos vivos. As manifesta\u00e7\u00f5es incluem alta estatura desproporcional, deformidades esquel\u00e9ticas, e risco de complica\u00e7\u00f5es cardiovasculares como aneurisma de aorta. O manejo envolve monitoramento regular e interven\u00e7\u00f5es cir\u00fargicas quando necess\u00e1rio.<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh7-rt.googleusercontent.com\/docsz\/AD_4nXeC8X3C3-pzI__jHoeOKZ0Yv1pwhha9-bcv3ttGtNE769LNpNUDnRIBqiJhgxYRuU-dCyQs9SYZJx4AeFusfO82ZZo_ggVUr2NLwP0q_IBPAnMSxN_RiW4619kP648g9xzs4DVmgg?key=xprSmHBETe7ifqL5Puw2RaKt\" alt=\"\"\/><figcaption class=\"wp-element-caption\">Fonte: Dean, John. \u201cMarfan syndrome: clinical diagnosis and management.\u201d European Journal of Human Genetics 15.7 (2007): 724-733.<\/figcaption><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-sindrome-de-noonan\"><span class=\"ez-toc-section\" id=\"Sindrome_de_Noonan\"><\/span><strong>S\u00edndrome de Noonan<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>A <strong>S\u00edndrome de Noonan,<\/strong> uma condi\u00e7\u00e3o autoss\u00f4mica dominante, \u00e9 causada por muta\u00e7\u00f5es na via RAS-MAPK. Afeta <strong>1 em 1.000 a 2.500 nascidos vivos<\/strong>. Os pacientes apresentam caracter\u00edsticas bem similares \u00e0 S\u00edndrome de Turner, como baixa estatura, pesco\u00e7o alado e cardiopatias cong\u00eanitas. O tratamento \u00e9 sintom\u00e1tico, incluindo terapia com horm\u00f4nio de crescimento.<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh7-rt.googleusercontent.com\/docsz\/AD_4nXcFUvtk1FvRxEndqg-ZQC4WlomIuGbYQ5zXb3O6_uEKSuceueddmW_69XDwkH9gOsCPGzwaUjb3j84UYI2ni8wgdkWhXZwm-0dERqiJOyfYS7Qx9xnGlWSk8JKzsysatKnOww57JA?key=xprSmHBETe7ifqL5Puw2RaKt\" alt=\"\"\/><figcaption class=\"wp-element-caption\">Fonte:&nbsp;Roberts, Amy E., et al. \u201cNoonan syndrome.\u201d The Lancet 381.9863 (2013): 333-342.&nbsp;<\/figcaption><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-neurofibromatose-tipo-1\"><span class=\"ez-toc-section\" id=\"Neurofibromatose_Tipo_1\"><\/span><strong>Neurofibromatose Tipo 1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>A Neurofibromatose Tipo 1 \u00e9 uma condi\u00e7\u00e3o autoss\u00f4mica dominante que afeta 1 em 3.000 nascidos vivos. Caracteriza-se por manchas caf\u00e9 com leite, neurofibromas cut\u00e2neos e risco aumentado de tumores malignos. O diagn\u00f3stico \u00e9 cl\u00ednico, baseado em crit\u00e9rios como o n\u00famero de manchas e presen\u00e7a de n\u00f3dulos de Lisch. O manejo foca no monitoramento e tratamento das complica\u00e7\u00f5es.<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh7-rt.googleusercontent.com\/docsz\/AD_4nXcgcnK3YJsPELERT_hR-9gdAzNNGVk0pI5DZzxENwHu1FIGj1bMtMEI7y44HMTbUEvm8FBsfAfSHHkZLzr84ciEice-FHNuOduNpB7DVlXeVywfSFOmE5qI_BEwHKBZSih-jPnchQ?key=xprSmHBETe7ifqL5Puw2RaKt\" alt=\"\"\/><figcaption class=\"wp-element-caption\">Fonte: https:\/\/images.app.goo.gl\/UxtGx7L1fpQmfquQ9\u00a0<\/figcaption><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-x-fragil\"><span class=\"ez-toc-section\" id=\"X_Fragil\"><\/span><strong>X Fr\u00e1gil<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>A S\u00edndrome do X Fr\u00e1gil \u00e9 a causa mais comum de defici\u00eancia intelectual herdada, resultante da expans\u00e3o de repeti\u00e7\u00f5es CGG no gene FMR1. Os pacientes apresentam disfun\u00e7\u00e3o cognitiva, espectro autista e caracter\u00edsticas faciais t\u00edpicas. O manejo envolve suporte educacional e terapias comportamentais.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-mucopolisacaridosis\"><span class=\"ez-toc-section\" id=\"Mucopolisacaridosis\"><\/span><strong>Mucopolisacaridosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>As mucopolissacaridoses s\u00e3o doen\u00e7as heredit\u00e1rias causadas por muta\u00e7\u00f5es em enzimas lisossomais. Afetam principalmente o tecido conjuntivo e o sistema nervoso central. As manifesta\u00e7\u00f5es incluem acometimento intelectual, hepatoesplenomegalia e altera\u00e7\u00f5es \u00f3sseas. O diagn\u00f3stico \u00e9 feito por testes enzim\u00e1ticos e o tratamento pode incluir terapia de reposi\u00e7\u00e3o enzim\u00e1tica.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-sindrome-de-prader-willi\"><span class=\"ez-toc-section\" id=\"Sindrome_de_Prader-Willi\"><\/span><strong>S\u00edndrome de Prader-Willi<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>A S\u00edndrome de Prader-Willi \u00e9 a principal causa gen\u00e9tica de obesidade, ocorrendo em 1 em 15.000 nascidos vivos. Caracteriza-se por hipotonia, atraso no desenvolvimento, e hiperfagia. O manejo inclui controle diet\u00e9tico rigoroso e terapia com horm\u00f4nio de crescimento.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/www.grupomedcof.com.br\/cofletters\/\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"366\" src=\"https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/10\/Capa-Eventos-MedCof-Plus-1-1024x366.png\" alt=\"\" class=\"wp-image-30896\" srcset=\"https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/10\/Capa-Eventos-MedCof-Plus-1-1024x366.png 1024w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/10\/Capa-Eventos-MedCof-Plus-1-300x107.png 300w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/10\/Capa-Eventos-MedCof-Plus-1-768x275.png 768w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/10\/Capa-Eventos-MedCof-Plus-1-1536x549.png 1536w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/10\/Capa-Eventos-MedCof-Plus-1-2048x732.png 2048w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/10\/Capa-Eventos-MedCof-Plus-1-1175x420.png 1175w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/10\/Capa-Eventos-MedCof-Plus-1-150x54.png 150w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/10\/Capa-Eventos-MedCof-Plus-1-696x249.png 696w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/10\/Capa-Eventos-MedCof-Plus-1-1068x382.png 1068w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/10\/Capa-Eventos-MedCof-Plus-1-1920x686.png 1920w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/a><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"seja-um-medcoffer\"><span class=\"ez-toc-section\" id=\"Seja_um_MedCoffer\"><\/span><strong>Seja um MedCoffer<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Para conquistar a aprova\u00e7\u00e3o nas provas de resid\u00eancia, seja um\u00a0<strong>MedCoffer<\/strong>! Aqui te ajudaremos na busca da aprova\u00e7\u00e3o com conte\u00fados de qualidade e uma\u00a0<a href=\"https:\/\/www.grupomedcof.com.br\/blog\/presenca-da-medcof-nas-aprovacoes-em-residencia-medica-no-brasil\/\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>metodologia que j\u00e1 aprovou mais de 35 mil residentes no pa\u00eds<\/strong><\/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<div class=\"youtube-embed\" data-video_id=\"rW-ZjA_BnMQ\"><iframe loading=\"lazy\" title=\"SingularCast T2 Ep.01 - Ferramentas e estrat\u00e9gias para aprova\u00e7\u00e3o em Oftalmologia com Dr. Lucas Rosa\" width=\"696\" height=\"392\" src=\"https:\/\/www.youtube.com\/embed\/rW-ZjA_BnMQ?feature=oembed&#038;enablejsapi=1\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe><\/div>\n<\/div><\/figure>\n","protected":false},"excerpt":{"rendered":"<p>O estudo das s\u00edndromes gen\u00e9ticas \u00e9 um campo fundamental na medicina. Por isso, separamos as principais s\u00edndromes para voc\u00ea ficar por dentro!<\/p>\n","protected":false},"author":21,"featured_media":32902,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[120],"tags":[1620,1996,1621,1995],"ppma_author":[3617],"class_list":{"0":"post-32901","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-pediatria","8":"tag-sindrome-de-down","9":"tag-sindrome-de-klinefelter","10":"tag-sindrome-de-patau","11":"tag-sindrome-de-turner"},"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v24.3 (Yoast SEO v27.4) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>S\u00edndromes Gen\u00e9ticas na Cl\u00ednica Pedi\u00e1trica: Guia | Medcof<\/title>\n<meta name=\"description\" content=\"O estudo das s\u00edndromes gen\u00e9ticas \u00e9 um campo fundamental na medicina. 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