{"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":"2026-02-10T17:49:02","modified_gmt":"2026-02-10T17:49:02","slug":"what-is-achondroplasia","status":"publish","type":"page","link":"https:\/\/achondroplasia.biomarin.com\/de-de\/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\/de-de\/wp-content\/uploads\/sites\/19\/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\/de-de\/wp-content\/uploads\/sites\/19\/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>Was ist Achondroplasie?\n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t    <p>Achondroplasie ist die h\u00e4ufigste Ursache f\u00fcr Kleinwuchs. Eines der wichtigsten Dinge, die man wissen muss, ist: <strong> es geht um mehr als die K\u00f6rpergr\u00f6\u00dfe.<\/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\/de-de\/wp-content\/uploads\/sites\/19\/2025\/04\/73030358-BM_VOS_GERMAN_In-The-Know-Patient-DSE-Website-2020-What-is-v2.pdf?v=0.110\" target=\"_blank\">FAKTEN-DOWNLOAD<\/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>Achondroplasie ist<\/h2>\n<p>eine Form von Skelettdysplasie (eine St\u00f6rung von Knochen und Knorpel). Es sind nahezu alle Knochen im K\u00f6rper betroffen. Am auff\u00e4lligsten ist die Erkrankung jedoch an Armen und Beinen sowie im Gesicht. Die umfangreichen Auswirkungen dieser St\u00f6rung k\u00f6nnen zu schweren, fortschreitenden und lebenslangen Komplikationen f\u00fchren. Trotz dieser Komplikationen sollte die Achondroplasie jedoch Menschen nicht davon abhalten, ein gl\u00fcckliches und erf\u00fclltes Leben zu f\u00fchren.<\/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\/de-de\/wp-content\/uploads\/sites\/19\/2025\/04\/Nur-eines-von-25.000-Neugeborenen.png?v=0.110\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>SELTEN\n<\/h3>\n                            <p>Eines von 25.000 Kindern wird mit Achondroplasie geboren. Weltweit sind etwa 250.000 Menschen von dieser Krankheit betroffen.<\/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\/de-de\/wp-content\/uploads\/sites\/19\/2023\/07\/genetic_promo@2x.png?v=0.110\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>GENETIK\n<\/h3>\n                            <p>Die meisten Kinder mit Achondroplasie (80 %) haben durchschnittlich gro\u00dfe Eltern. Die Krankheit wird in diesen F\u00e4llen durch eine zuf\u00e4llige Ver\u00e4nderung im Gen (Mutation) hervorgerufen, das zu einer Funktionsst\u00f6rung des Gens f\u00fchrt.<\/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\/de-de\/wp-content\/uploads\/sites\/19\/2023\/07\/diagnosed_promo@2x.png?v=0.110\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>UNTERSCHIEDLICHE DIAGNOSESTELLUNGEN\n<\/h3>\n                            <p>Gelegentlich wird die Achondroplasie vor der Geburt bei einer Ultraschalluntersuchung festgestellt. Eventuell muss die Diagnose durch weitere medizinische Bildgebung oder genetische Untersuchungen noch best\u00e4tigt werden. In anderen F\u00e4llen wird sie erst nach der Geburt diagnostiziert.<\/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>Achondroplasie beginnt an den Knochen<\/h2>\n<p>Die Knochen beginnen das Wachstum bereits vor der Geburt (im Mutterleib) und wachsen bis ins Erwachsenenalter. Dabei bildet der K\u00f6rper in Wachstumszonen des Knochens Knorpel, der anschlie\u00dfend durch Knochen ersetzt wird.<\/p>\n<p>Chondrozyten (Knorpelzellen) richten sich aus, um neuen Knochen zu bilden. Dieser Vorgang wird als \u201eendochondrale Ossifikation\u201c bezeichnet und findet in nahezu allen Knochen des K\u00f6rpers statt. Rezeptoren in den Chondrozyten kontrollieren diesen Vorgang, indem sie Signale aussenden und empfangen.<\/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\/de-de\/wp-content\/uploads\/sites\/19\/2025\/05\/CARTILAGE-DE.png?v=0.110\" alt=\"\" \/>            <\/div>\n    <\/figure>\n\n<div id=\"acf-block-64a7e7da3fcee\" class=\"block-wysiwyg\">\n            <p>Die Signale der der natriuretischen Peptidrezeptoren B (NPRB) regen die Knochen zum Wachstum an. Die Signale des Fibroblasten-Wachstumsfaktorrezeptors 3 (FGFR3) bremsen das Knochenwachstum.<\/p>\n<p>FGFR3-Rezeptoren werden im Allgemeinen nur \u201eangeschaltet\u201c, wenn der K\u00f6rper die Umwandlung von Knorpel in Knochen stoppen muss.<\/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\/de-de\/wp-content\/uploads\/sites\/19\/2025\/04\/redone-ow.png?v=0.110\" alt=\"\" \/>            <\/div>\n    <\/figure>\n\n<div id=\"acf-block-64a7e9c12851d\" class=\"block-wysiwyg\">\n            <p>Bei der Achondroplasie f\u00fchrt eine Ver\u00e4nderung der Struktur des FGFR3-Gens dazu, dass der K\u00f6rper ununterbrochen Signale zur Verlangsamung des Knochenwachstums aussendet. Da die FGFR3-Rezeptoren immer \u201eangeschaltet\u201c sind, sind die Signale zur Verlangsamung des Knochenwachstums st\u00e4rker als die Wachstumssignale, die von den NPRB-Rezeptoren stammen.<\/p>\n<p>Daher k\u00f6nnen sich die Chondrozyten nicht richtig ausrichten, um neuen Knochen zu bilden. Das Knochenwachstum ist folglich verlangsamt.<\/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\">Erfahren Sie mehr \u00fcber die lebenslangen Auswirkungen der Achondroplasie\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                                <div class=\"content-block\">\n                                <p><a class=\"button button-ghost button-arrow\" href=\"https:\/\/achondroplasia.biomarin.com\/de-de\/living-with-achondroplasia\/\" target=\"_self\">wissen, was Sie erwartet<\/a><\/p>\n                            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