{"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":"2025-06-12T20:02:58","modified_gmt":"2025-06-12T20:02:58","slug":"what-is-achondroplasia","status":"publish","type":"page","link":"https:\/\/achondroplasia.biomarin.com\/pt-pt\/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\/pt-pt\/wp-content\/uploads\/sites\/20\/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\/pt-pt\/wp-content\/uploads\/sites\/20\/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>O que \u00e9 a acondroplasia?\n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t    <p>A acondroplasia \u00e9 a causa mais frequente de estatura baixa ou nanismo. Uma das coisas mais importantes que devemos saber \u00e9 que <strong>n\u00e3o se trata apenas de uma quest\u00e3o de altura.<\/strong><\/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\/pt-pt\/wp-content\/uploads\/sites\/20\/2025\/05\/What_Is_Achondroplasia-pt.pdf?v=0.110\" target=\"_blank\">TRANSFERIR OS FACTOS<\/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>A ACONDROPLASIA \u00c9<\/h2>\n<p>um tipo de displasia esquel\u00e9tica (uma doen\u00e7a que afeta os ossos e a cartilagem). Embora os efeitos mais vis\u00edveis ocorram nos bra\u00e7os, pernas e rosto, quase todos os ossos do corpo s\u00e3o afetados. O impacto generalizado desta doen\u00e7a pode causar complica\u00e7\u00f5es graves, progressivas e para toda a vida. Mas, n\u00e3o obstante estas complica\u00e7\u00f5es, a acondroplasia n\u00e3o tem necessariamente de impedir as pessoas de ter uma vida feliz e realizada.<\/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\">\n            <div class=\"image-block medium\">\n            <figure>\n                <div class=\"image image-rounded\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/achondroplasia.biomarin.com\/pt-pt\/wp-content\/uploads\/sites\/20\/2025\/05\/Group-3429-1-pt.png?v=0.110\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>RARA\n<\/h3>\n                            <p>1 em cada 25\u00a0000 crian\u00e7as nasce com acondroplasia, e existem cerca de 250\u00a0000 pessoas no mundo com esta doen\u00e7a.<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\/pt-pt\/wp-content\/uploads\/sites\/20\/2023\/07\/genetic_promo@2x.png?v=0.110\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>GEN\u00c9TICA\n<\/h3>\n                            <p>A maioria das crian\u00e7as com acondroplasia (80%) nasce de pais com estatura m\u00e9dia como resultado de uma altera\u00e7\u00e3o aleat\u00f3ria num gene (uma muta\u00e7\u00e3o) que faz com que n\u00e3o funcione corretamente.<sup>3<\/sup><\/p>\n<p><small><strong>Refer\u00eancias:<\/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\/pt-pt\/wp-content\/uploads\/sites\/20\/2023\/07\/diagnosed_promo@2x.png?v=0.110\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>DIAGNOSTICADA DE DIFERENTES FORMAS\n<\/h3>\n                            <p>Por vezes, a acondroplasia \u00e9 detetada ou descoberta antes do nascimento com base nas caracter\u00edsticas f\u00edsicas visualizadas durante uma ecografia. Poder\u00e1 ser necess\u00e1rio realizar exames radiol\u00f3gicos (imagiologia m\u00e9dica) ou an\u00e1lises gen\u00e9ticas para confirmar o diagn\u00f3stico. Noutros casos, s\u00f3 \u00e9 diagnosticada ap\u00f3s o nascimento.<\/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>A acondroplasia come\u00e7a nos ossos<\/h2>\n<p>Os ossos come\u00e7am a crescer antes do nascimento (no \u00fatero) e continuam a crescer at\u00e9 \u00e0 idade adulta. O processo ocorre nas placas de crescimento dos ossos, onde o corpo produz cartilagem que depois \u00e9 substitu\u00edda por osso.<\/p>\n<p>Os condr\u00f3citos (c\u00e9lulas na cartilagem) alinham-se para formar um novo osso. Este processo chama-se ossifica\u00e7\u00e3o endocondral e ocorre em praticamente todos os ossos do corpo. Os recetores nos condr\u00f3citos controlam o processo atrav\u00e9s do envio e rece\u00e7\u00e3o de sinais.<\/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\/pt-pt\/wp-content\/uploads\/sites\/20\/2025\/05\/acho-bone-img_new-2.png?v=0.110\" alt=\"\" \/>            <\/div>\n    <\/figure>\n\n<div id=\"acf-block-64a7e7da3fcee\" class=\"block-wysiwyg\">\n            <p>Alguns sinais, como os sinais dos recetores NPRB (recetor do pept\u00eddeo natriur\u00e9tico tipo B), instruem os ossos a crescerem. Outros, como os sinais dos recetores FGFR3 (recetor do fator de crescimento de fibroblastos 3), instruem os ossos a abrandarem o crescimento.<\/p>\n<p>Normalmente, os recetores FGFR3 s\u00f3 s\u00e3o \u201cativados\u201d quando o corpo precisa de deixar de transformar cartilagem em osso.<\/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\/pt-pt\/wp-content\/uploads\/sites\/20\/2025\/06\/Group-288-2.png?v=0.110\" alt=\"\" \/>            <\/div>\n    <\/figure>\n\n<div id=\"acf-block-64a7e9c12851d\" class=\"block-wysiwyg\">\n            <p>Na acondroplasia, uma altera\u00e7\u00e3o na estrutura do gene <em>FGFR3<\/em> faz com que o corpo envie constantemente sinais para abrandar o crescimento dos ossos. Dado que os recetores FGFR3 est\u00e3o sempre \u201cativados\u201d, os sinais para abrandar o crescimento \u00f3sseo s\u00e3o mais fortes do que os sinais que instruem os ossos a crescerem (e que v\u00eam dos recetores NPRB).<\/p>\n<p><strong>Como resultado, os condr\u00f3citos t\u00eam dificuldade em se alinhar para formar novo osso, comprometendo o crescimento \u00f3sseo.<\/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\">Conhe\u00e7a os impactos da acondroplasia durante toda a vida.\n<\/h2>\n\t\t\t\t\t\t    \t\t\t\t\t\t    \t\t\t\t\t    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