{"id":10013,"date":"2020-11-17T02:29:29","date_gmt":"2020-11-17T02:29:29","guid":{"rendered":"https:\/\/dermatly.com\/sindrome-de-noonan\/"},"modified":"2026-03-10T16:31:42","modified_gmt":"2026-03-10T16:31:42","slug":"noonan-syndrome","status":"publish","type":"glossary","link":"https:\/\/dermatly.com\/en\/sindrome-de-noonan\/","title":{"rendered":"Noonan Syndrome"},"content":{"rendered":"<section class=\"textBlock\">\n<h1>Definici\u00f3n y Conceptos Clave del S\u00edndrome de Noonan<\/h1>\n<p>El <dfn>s\u00edndrome de Noonan<\/dfn> es un trastorno gen\u00e9tico de herencia <span class=\"term\" data-term-id=\"828\">autos\u00f3mica<\/span> dominante. Est\u00e1 ligado a <span class=\"term\" data-term-id=\"871\">mutaciones<\/span> en genes que afectan la v\u00eda de se\u00f1alizaci\u00f3n Ras\/MAPK (prote\u00edna quinasa activada por mit\u00f3genos), clasific\u00e1ndolo dentro de un grupo conocido como <span class=\"term\" data-term-id=\"1220\">RASopat\u00edas<\/span>.<\/p>\n<p>Las caracter\u00edsticas principales que definen el s\u00edndrome de Noonan incluyen:<\/p>\n<ul>\n<li>Rasgos faciales distintivos.<\/li>\n<li>Estatura baja.<\/li>\n<li>Alteraciones en la forma del t\u00f3rax (deformidad precordial).<\/li>\n<li>Cardiopat\u00eda cong\u00e9nita presente.<\/li>\n<\/ul>\n<p>Dada su variabilidad cl\u00ednica, el s\u00edndrome de Noonan tambi\u00e9n es conocido por varios t\u00e9rminos hist\u00f3ricos o alternativos, tales como:<\/p>\n<ul>\n<li><span class=\"term\" data-term-id=\"849\">S\u00edndrome familiar<\/span> de Turner.<\/li>\n<li>S\u00edndrome de pseudo-Turner femenino.<\/li>\n<li>S\u00edndrome de Turner masculino.<\/li>\n<li>S\u00edndrome de Noonan-Ehmke.<\/li>\n<li>S\u00edndrome de pseudo-Ullrich-Turner.<\/li>\n<li>S\u00edndrome de Turner.<\/li>\n<li>Fenotipo de Turner con <span class=\"term\" data-term-id=\"1489\">cariotipo<\/span> normal.<\/li>\n<li>S\u00edndrome de Ullrich-Noonan.<\/li>\n<\/ul>\n<section class=\"textBlock imageLinkBlockTitle\">\n<h2 class=\"colour--primary\">Representaci\u00f3n Visual del S\u00edndrome de Noonan<\/h2>\n<\/section>\n<section class=\"imageLinkBlock\">\n<div class=\"flex\">\n<div class=\"imageLinkBlock__item__image\">\n                <img decoding=\"async\" src=\"https:\/\/dermatly.com\/wp-content\/uploads\/2020\/11\/Noonan-syndrome__ProtectWyJQcm90ZWN0Il0_FocusFillWzI5NCwyMjIsInkiLDE0XQ.PNG\" alt=\"Ni\u00f1a de 12 a\u00f1os con rasgos faciales caracter\u00edsticos del S\u00edndrome de Noonan, incluyendo hipertelorismo y orejas de implantaci\u00f3n baja.\">\n            <\/div>\n<p class=\"p-small\">S\u00edndrome de Noonan<\/p>\n<\/p><\/div>\n<\/section>\n<div class=\"clearfix imageLinkBlock\"><\/div>\n<p><span style=\"font-size: 10px;\">Fuente: <a rel=\"nofollow noopener noreferrer\" target=\"_blank\" href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Noonan_syndrome.PNG\">Wikipedia<\/a><\/span><\/p>\n<h2>Causas Gen\u00e9ticas del S\u00edndrome de Noonan: V\u00eda Ras\/MAPK<\/h2>\n<p>El s\u00edndrome de Noonan es provocado por <span class=\"term\" data-term-id=\"775\">mutaciones<\/span> en <span class=\"term\" data-term-id=\"774\">genes<\/span> cr\u00edticos que regulan la v\u00eda de se\u00f1alizaci\u00f3n celular Ras\/MAPK. Esta v\u00eda es esencial para procesos biol\u00f3gicos fundamentales como la divisi\u00f3n celular, la <span class=\"term\" data-term-id=\"893\">proliferaci\u00f3n<\/span>, la <span class=\"term\" data-term-id=\"1307\">diferenciaci\u00f3n<\/span> y la migraci\u00f3n celular. Las alteraciones gen\u00e9ticas en esta cascada conducen a una desregulaci\u00f3n del crecimiento.<\/p>\n<p>Espec\u00edficamente, las mutaciones en el <span class=\"term\" data-term-id=\"774\">gen<\/span> <em>PTPN11<\/em> est\u00e1n implicadas en m\u00e1s del 50% de los casos diagnosticados de s\u00edndrome de Noonan. Posteriormente, las mutaciones en <em>SOS1<\/em> se identifican en un 10-15% de los casos, mientras que las mutaciones en los <span class=\"term\" data-term-id=\"775\">genes<\/span> <em>RAF1<\/em> y <em>RIT1<\/em> representan aproximadamente un 5% cada uno. Otros <span class=\"term\" data-term-id=\"775\">genes<\/span> explican el porcentaje restante de etiolog\u00edas.<\/p>\n<p>Es importante destacar que la causa <span class=\"term\" data-term-id=\"558\">gen\u00e9tica<\/span> exacta del s\u00edndrome de Noonan permanece sin identificar en hasta un 20% de los individuos afectados.<\/p>\n<h2>Manifestaciones Cl\u00ednicas y Hallazgos F\u00edsicos del S\u00edndrome de Noonan<\/h2>\n<p>El s\u00edndrome de Noonan afecta a ambos sexos y a todas las razas. En aproximadamente el 50% al 70% de los casos, se manifiesta una baja estatura. Aunque el peso y la longitud al nacer suelen ser normales, el ritmo de crecimiento disminuye con el tiempo, lo cual se sospecha que est\u00e1 relacionado con niveles an\u00f3malos de hormona del crecimiento.<\/p>\n<p>Las caracter\u00edsticas faciales distintivas son un sello del s\u00edndrome de Noonan e incluyen:<\/p>\n<ul>\n<li>Surco nasolabial profundo (el pliegue entre la nariz y el labio superior).<\/li>\n<li>Hipertelorismo (separaci\u00f3n excesiva entre los ojos).<\/li>\n<li>Orejas implantadas bajas y rotadas posteriormente.<\/li>\n<li>Paladar alto y arqueado.<\/li>\n<li>Desalineaci\u00f3n dental (maloclusi\u00f3n).<\/li>\n<li>Micrognatia (mand\u00edbula inferior peque\u00f1a).<\/li>\n<\/ul>\n<p>Otras <span class=\"term\" data-term-id=\"2132\">manifestaciones<\/span> cl\u00ednicas asociadas al s\u00edndrome de Noonan comprenden:<\/p>\n<ul>\n<li>Cuello alado (piel redundante que le da apariencia de alas).<\/li>\n<li>Cuello corto con una l\u00ednea del pelo baja en la <span class=\"term\" data-term-id=\"239\">parte posterior<\/span>.<\/li>\n<li>Deformidades tor\u00e1cicas como <em>pectus excavatum<\/em> (estern\u00f3n hundido) o <em>pectus carinatum<\/em> (estern\u00f3n prominente).<\/li>\n<li><span class=\"term\" data-term-id=\"1224\">Escoliosis<\/span> (curvatura anormal <span class=\"term\" data-term-id=\"163\">lateral<\/span> de la columna vertebral).<\/li>\n<li>Linfedema (hinchaz\u00f3n causada por acumulaci\u00f3n de linfa).<\/li>\n<li>Trastornos de la coagulaci\u00f3n o hemorr\u00e1gicos.<\/li>\n<li><span class=\"term\" data-term-id=\"1840\">Hipogonadismo<\/span> (funci\u00f3n gonadal deteriorada que puede resultar en una producci\u00f3n inadecuada de <span class=\"term\" data-term-id=\"1167\">hormonas<\/span> sexuales).<\/li>\n<\/ul>\n<p>La cardiopat\u00eda cong\u00e9nita es altamente prevalente en el s\u00edndrome de Noonan; el defecto card\u00edaco m\u00e1s com\u00fanmente observado es la estenosis de la v\u00e1lvula <span class=\"term\" data-term-id=\"1009\">pulmonar<\/span>.<\/p>\n<p>Comprender estos aspectos gen\u00e9ticos y cl\u00ednicos es fundamental para el diagn\u00f3stico temprano y el manejo multidisciplinario de las personas afectadas por el s\u00edndrome de Noonan.<\/p>\n<\/section>\n<p>Se ha corregido una <span class=\"term\" data-term-id=\"1215\">estenosis<\/span>.<\/p>\n<p>Los efectos <span class=\"term\" data-term-id=\"47\">cut\u00e1neos<\/span> asociados al s\u00edndrome de Noonan son diversos, y la documentaci\u00f3n cient\u00edfica al respecto sigue siendo limitada. Dentro de las manifestaciones d\u00e9rmicas documentadas del s\u00edndrome de Noonan se incluyen:<\/p>\n<ul>\n<li>Presencia de <span class=\"term\" data-term-id=\"1520\">nevos<\/span> <span class=\"term\" data-term-id=\"785\">melanoc\u00edticos<\/span> <span class=\"term\" data-term-id=\"354\">pigmentados<\/span> (lunares).<\/li>\n<li>Anomal\u00edas en los dermatoglifos (patrones de huellas dactilares), caracterizadas por un aumento de los verticilos en las yemas de los dedos, secundario a linfedema <span class=\"term\" data-term-id=\"1374\">perif\u00e9rico<\/span>.<\/li>\n<li><span class=\"term\" data-term-id=\"2333\">Dermatitis<\/span> de <span class=\"term\" data-term-id=\"53\">estasis<\/span> (una <span class=\"term\" data-term-id=\"490\">dermatosis<\/span> <span class=\"term\" data-term-id=\"60\">inflamatoria<\/span> frecuente, causada por la acumulaci\u00f3n <span class=\"term\" data-term-id=\"1178\">venosa<\/span> en las extremidades inferiores).<\/li>\n<li><span class=\"term\" data-term-id=\"588\">Hiperqueratosis<\/span> <span class=\"term\" data-term-id=\"610\">plantar<\/span> o <span class=\"term\" data-term-id=\"591\">queratodermia<\/span>, que implica el engrosamiento de la piel de la planta de los pies.<\/li>\n<\/ul>\n<p>El s\u00edndrome de Noonan con m\u00faltiples <span class=\"term\" data-term-id=\"1394\">lentigos<\/span>, previamente denominado s\u00edndrome LEOPARD, es una condici\u00f3n similar al s\u00edndrome de Noonan y presenta caracter\u00edsticas cut\u00e1neas distintivas, tales como:<\/p>\n<ul>\n<li><span class=\"term\" data-term-id=\"343\">M\u00e1culas<\/span> caf\u00e9 con leche (manchas planas, de color marr\u00f3n claro) originadas por una concentraci\u00f3n de <span class=\"term\" data-term-id=\"181\">melanocitos<\/span> productores de <span class=\"term\" data-term-id=\"231\">pigmento<\/span> en el <span class=\"term\" data-term-id=\"85\">epidermis<\/span>.<\/li>\n<li>Lentigos ( <span class=\"term\" data-term-id=\"2115\">lesiones<\/span> planas o ligeramente elevadas con bordes <span class=\"term\" data-term-id=\"303\">bien definidos<\/span>): A diferencia de las pecas comunes, estas m\u00e1culas no reaccionan a la exposici\u00f3n solar.<\/li>\n<\/ul>\n<div id=\"square-placement-country-holder\" class=\"country-dependent advert\">\n<div class=\"box-placement square-placement\">\n<div class=\"advert__frame\">\n                        <!-- \/340621630\/dermnet_mobile_afterfirstsection_300x250 --><\/p>\n<div style=\"display: none;\" id=\"hidden-div-gpt-ad-1484122037505-8\" class=\"[ js-hideable ]\"><\/div>\n<p><script>\n    if (ads_screenwidth < 780 ) {\n        var inline = document.createElement(\"div\");\n        var ad = document.createElement(\"div\");\n\n        ad.id = 'div-gpt-ad-1484122037505-8';\n        ad.style.height=\"250px\";\n        ad.style.width=\"300px;\";\n\n        inline.appendChild(ad);\n        inline.className = \"inline\";\n        var placeholder = document.getElementById(\"hidden-div-gpt-ad-1484122037505-8\");\n        placeholder.parentNode.replaceChild(inline, placeholder);\n        (function () {\n            googletag.cmd.push(function () {\n                googletag.display('div-gpt-ad-1484122037505-8');\n            });\n        })();\n    }\n<\/script>\n                    <\/div>\n<\/p><\/div>\n<\/p><\/div>\n<h2>Complicaciones Asociadas al S\u00edndrome de Noonan<\/h2>\n<p>La <span class=\"term\" data-term-id=\"1409\">cardiomiopat\u00eda<\/span> <span class=\"term\" data-term-id=\"605\">hipertr\u00f3fica<\/span> es una complicaci\u00f3n frecuente en individuos afectados por este s\u00edndrome, especialmente si presentan estenosis cr\u00edtica cong\u00e9nita de la v\u00e1lvula pulmonar.<\/p>\n<p>Las personas diagnosticadas con s\u00edndrome de Noonan exhiben un riesgo significativamente elevado (ocho veces mayor) de <span class=\"term\" data-term-id=\"2344\">desarrollar<\/span> neoplasias <span class=\"term\" data-term-id=\"1522\">hematol\u00f3gicas<\/span>, siendo la <span class=\"term\" data-term-id=\"613\">leucemia<\/span> el tipo m\u00e1s com\u00fan reportado.<\/p>\n<h2>Opciones de Tratamiento para el S\u00edndrome de Noonan<\/h2>\n<p>Actualmente, no existe un tratamiento curativo espec\u00edfico para el s\u00edndrome de Noonan. La estrategia terap\u00e9utica se centra en el manejo y control de cualquier complicaci\u00f3n asociada, como las afecciones card\u00edacas, y debe ajustarse rigurosamente a los s\u00edntomas, signos cl\u00ednicos y resultados diagn\u00f3sticos obtenidos en cada paciente.<\/p>\n<\/section>\n","protected":false},"excerpt":{"rendered":"<p>Definici\u00f3n y Conceptos Clave del S\u00edndrome de Noonan El s\u00edndrome de Noonan es un trastorno gen\u00e9tico de herencia autos\u00f3mica dominante. Est\u00e1 ligado a mutaciones en genes que afectan la v\u00eda de se\u00f1alizaci\u00f3n Ras\/MAPK (prote\u00edna quinasa activada por mit\u00f3genos), clasific\u00e1ndolo dentro de un grupo conocido como RASopat\u00edas. Las caracter\u00edsticas principales que definen el s\u00edndrome de Noonan [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":10015,"parent":0,"template":"","glossary-cat":[],"class_list":["post-10013","glossary","type-glossary","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v26.2 (Yoast SEO v27.1.1) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>S\u00edndrome de Noonan - Dermatly.com - El sitio de tu piel<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/dermatly.com\/en\/noonan-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"S\u00edndrome de Noonan\" \/>\n<meta property=\"og:description\" content=\"Definici\u00f3n y Conceptos Clave del S\u00edndrome de Noonan El s\u00edndrome de Noonan es un trastorno gen\u00e9tico de herencia autos\u00f3mica dominante. Est\u00e1 ligado a mutaciones en genes que afectan la v\u00eda de se\u00f1alizaci\u00f3n Ras\/MAPK (prote\u00edna quinasa activada por mit\u00f3genos), clasific\u00e1ndolo dentro de un grupo conocido como RASopat\u00edas. 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