{"id":22,"date":"2023-07-07T09:05:20","date_gmt":"2023-07-07T09:05:20","guid":{"rendered":"https:\/\/achdsepatient-dev-001.azurewebsites.net\/en-us\/?page_id=22"},"modified":"2025-07-23T12:05:44","modified_gmt":"2025-07-23T12:05:44","slug":"what-is-achondroplasia","status":"publish","type":"page","link":"https:\/\/achondroplasia.biomarin.com\/es-es\/what-is-achondroplasia\/","title":{"rendered":"What is achondroplasia?"},"content":{"rendered":"<div id=\"acf-block-64a7e7da3beb2\" class=\"hero hero-no-overlay\">\n            <div class=\"hero-background-image hero-background-image-desktop\" style=\"background-image: url(https:\/\/achondroplasia.biomarin.com\/es-es\/wp-content\/uploads\/sites\/23\/2023\/07\/what_is_hero.jpg?v=0.110);\"><\/div>\n\t    <div class=\"hero-background-image hero-background-image-mobile\" style=\"background-image: url(https:\/\/achondroplasia.biomarin.com\/es-es\/wp-content\/uploads\/sites\/23\/2023\/09\/whatis_mobilehero@2x.png?v=0.110);\"><\/div>\n    \t<div class=\"overlay\"><\/div>\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"hero-content\">\n\t\t\t    \t\t\t\t\t\t\t\t\t\t\t\t    <h1>\u00bfQu\u00e9 es la acondroplasia?\n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t    <p>La acondroplasia es la causa m\u00e1s habitual de baja estatura o enanismo. Pero no es solo una cuesti\u00f3n de estatura.<\/p>\n\t\t\t\t\t\t\t\t\n                <p class=\"inline-buttons\">\n                    \t\t\t\t        <a class=\"button button-download\" href=\"https:\/\/achondroplasia.biomarin.com\/es-es\/wp-content\/uploads\/sites\/23\/2025\/04\/What_Is_Achondroplasia.pdf?v=0.110\" target=\"_blank\">DESCARGUE LOS DATOS<\/a>\t\t\t\t                                        <\/p>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n<div id=\"**\" class=\"block wrapped-content bg-band bg-band-alternative block-zero-top block-zero-bottom block-remove-bottom-padding\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-64a7e7da3da8b\" class=\"block-wysiwyg\">\n            <h2>LA ACONDROPLASIA<\/h2>\n<p>La acondroplasia es un tipo de displasia \u00f3sea (una enfermedad que afecta a los huesos y cart\u00edlagos). Aunque los efectos son m\u00e1s visibles en los brazos, piernas y rostro, afecta a casi todos los huesos del cuerpo. Los efectos generalizados de esta enfermedad pueden causar complicaciones graves, progresivas y permanentes. A pesar de las complicaciones, la acondroplasia no deber\u00eda impedir tener una vida feliz y plena.<\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-65045eda643eb\" class=\"block wrapped-content bg-band bg-band-alternative block-zero-top block-zero-bottom block-remove-bottom-padding\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-64a7e7da3dd44\" class=\"block boxed-content block-zero-top boxed-content-white\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\">\n\t\t\t\t\t\t\t\t\n<div id=\"acf-block-64a7e7da3e25d\" class=\"image-text-block content-align-center bottom-border block-tight-bottom\">\n            <div class=\"image-block medium\">\n            <figure>\n                <div class=\"image image-rounded\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/achondroplasia.biomarin.com\/es-es\/wp-content\/uploads\/sites\/23\/2023\/07\/rare_promo@2x.png?v=0.110\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>ES RARA\n<\/h3>\n                            <p>Uno de cada 25 000 ni\u00f1os nace con acondroplasia y alrededor de 250 000 personas en el mundo padecen esta enfermedad.<sup>1,2<\/sup><\/p>\n                    <\/div>\n<\/div>\n\n<div id=\"acf-block-64a7e7da3e31e\" class=\"image-text-block content-align-center bottom-border\">\n            <div class=\"image-block medium\">\n            <figure>\n                <div class=\"image image-rounded\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/achondroplasia.biomarin.com\/es-es\/wp-content\/uploads\/sites\/23\/2023\/07\/genetic_promo@2x.png?v=0.110\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>ES GEN\u00c9TICA\n<\/h3>\n                            <p>La mayor\u00eda de ni\u00f1os con acondroplasia (80 %) tienen padres de estatura media, pero en ellos se produce un cambio aleatorio en un gen (mutaci\u00f3n) que hace que este no funcione correctamente.<sup>3<\/sup><\/p>\n<p><small><strong>Bibliograf\u00eda:<\/strong> <strong>1.<\/strong> Ireland PJ <em>et al. Appl Clin Genet<\/em> 2014;7:117\u2013125. <strong>2.<\/strong> Wynn J <em>et al. Am J Med Genet<\/em> A 2007;143A(21):2502\u201311. <strong>3.<\/strong> Hecht JT, Bodensteiner JB, Butler IJ. <em>Handb Clin Neurol<\/em> 2014;119:551\u201363.<\/small><\/p>\n                    <\/div>\n<\/div>\n\n<div id=\"acf-block-64a7e7da3e3c0\" class=\"image-text-block content-align-center\">\n            <div class=\"image-block medium\">\n            <figure>\n                <div class=\"image image-rounded\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/achondroplasia.biomarin.com\/es-es\/wp-content\/uploads\/sites\/23\/2023\/07\/diagnosed_promo@2x.png?v=0.110\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>SE DIAGNOSTICA DE DIFERENTES FORMAS\n<\/h3>\n                            <p>A veces la acondroplasia se detecta antes del nacimiento en funci\u00f3n de ciertos rasgos f\u00edsicos observados durante la ecograf\u00eda. Es posible que se necesiten pruebas radiol\u00f3gicas (diagn\u00f3stico por imagen) o gen\u00e9ticas para confirmar el diagn\u00f3stico. En otros casos, la enfermedad no se diagnostica hasta que nace el ni\u00f1o.<\/p>\n                    <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-64a7e7da3e408\" class=\"block wrapped-content bg-band block-zero-top block-zero-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-64a7e7da3e441\" class=\"block-wysiwyg\">\n            <h2>La acondroplasia empieza en los huesos<\/h2>\n<p>El crecimiento de los huesos empieza antes del nacimiento (en el \u00fatero) y se extiende hasta la edad adulta. El proceso tiene lugar en las placas de crecimiento de los huesos, en las que se forma el cart\u00edlago que ser\u00e1 sustituido por hueso.<\/p>\n<p>Los condrocitos (c\u00e9lulas del cart\u00edlago) se alinean y forman hueso nuevo. Este proceso se llama osificaci\u00f3n endocondral y se produce en casi todos los huesos del cuerpo. Los receptores de los condrocitos regulan el proceso enviando y recibiendo se\u00f1ales.<\/p>\n    <\/div>\n\n<figure id=\"acf-block-64a7e7da3fca5\">\n    <div class=\"image image-rounded image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/achondroplasia.biomarin.com\/es-es\/wp-content\/uploads\/sites\/23\/2025\/05\/acho-bone-img_new.png?v=0.110\" alt=\"\" \/>            <\/div>\n    <\/figure>\n\n<div id=\"acf-block-64a7e7da3fcee\" class=\"block-wysiwyg\">\n            <p>Algunas de estas se\u00f1ales, como las de los receptores NPR-B (receptor B del p\u00e9ptido natriur\u00e9tico), les indican a los huesos que crezcan. Otras, como las de los receptores FGFR3 (receptor 3 del factor de crecimiento de fibroblastos), indican a los huesos que ralenticen el crecimiento.<\/p>\n<p>Normalmente, los receptores FGFR3 solo se \u00abactivan\u00bb cuando el cuerpo necesita dejar de convertir cart\u00edlago en hueso.<\/p>\n    <\/div>\n\n<figure id=\"acf-block-64a7e9c128335\">\n    <div class=\"image image-rounded image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/achondroplasia.biomarin.com\/es-es\/wp-content\/uploads\/sites\/23\/2025\/05\/Screenshot-2025-05-14-at-14.37.36.png?v=0.110\" alt=\"\" \/>            <\/div>\n    <\/figure>\n\n<div id=\"acf-block-64a7e9c12851d\" class=\"block-wysiwyg\">\n            <p>En la acondroplasia, un cambio en la estructura del gen <em>FGFR3<\/em> provoca que se env\u00eden continuamente se\u00f1ales para reducir el crecimiento \u00f3seo. Como los receptores FGFR3 est\u00e1n siempre \u00abactivados\u00bb, las se\u00f1ales para reducir el crecimiento \u00f3seo son m\u00e1s fuertes que las que les indican a los huesos que crezcan (provenientes de los receptores NPRB).<\/p>\n<p><strong>El resultado es que a los condrocitos les cuesta alinearse para formar hueso nuevo y esto afecta al crecimiento.<\/strong><\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6748824cd9390\" class=\"block call-to-action\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\" style=\"\">\n\t\t\t\t<div class=\"overlay\"><\/div>\n\t\t\t\t<div class=\"cta-content\">\n\t\t\t\t    \t\t\t\t\t<div class=\"cta-content-main\">\n                        <div class=\"content-block\">\n\t\t\t\t\t        \t\t\t\t\t        \t\t\t\t\t\t        <h2 class=\"h3\">Conozca los efectos permanentes de la acondroplasia.\n<\/h2>\n\t\t\t\t\t\t    \t\t\t\t\t\t    \t\t\t\t\t    <\/div>\n\t\t\t\t\t          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