{"id":17,"date":"2022-11-03T18:33:55","date_gmt":"2022-11-03T18:33:55","guid":{"rendered":"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/?page_id=17"},"modified":"2025-05-14T12:47:33","modified_gmt":"2025-05-14T12:47:33","slug":"cause","status":"publish","type":"page","link":"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/cause\/","title":{"rendered":"Cause"},"content":{"rendered":"<div id=\"What-is-achondroplasia\" class=\"hero hero-no-overlay\">\n            <div class=\"hero-background-image hero-background-image-desktop\" style=\"background-image: url(https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/wp-content\/uploads\/sites\/2\/2022\/11\/Cause_Hero.jpg?v=0.122);\"><\/div>\n\t    <div class=\"hero-background-image hero-background-image-mobile\" style=\"background-image: url(https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/wp-content\/uploads\/sites\/2\/2022\/12\/mobile_bg.png?v=0.122);\"><\/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>What is the cause of achondroplasia?\n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t    <p>A mutation of the FGFR3 gene<\/p>\n\t\t\t\t\t\t\t\t\n                <p class=\"inline-buttons\">\n                                                        <\/p>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n<div id=\"what-is-achon\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-63f4e5ab1753b\" class=\"block-wysiwyg\">\n            <h2>Achondroplasia is the most common type of skeletal dysplasia<\/h2>\n<p>Achondroplasia occurs in 1 out of 25,000 live births and affects around 250,000 people worldwide<sup>1,2 <\/sup>Achondroplasia accounts for nearly 90% of disproportionate short stature or dwarfism. Characterized by impaired endochondral bone growth, it is caused by a gain-of-function pathogenic variant in the fibroblast growth factor receptor 3 <em>(FGFR3)<\/em> gene and has distinct physical characteristics<sup>1,3-8<\/sup><\/p>\n    <\/div>\n\n<figure id=\"acf-block-63f4e5ab17556\">\n    <div class=\"image image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/wp-content\/uploads\/sites\/2\/2023\/05\/boy_with_labels.svg\" alt=\"Silhouette of a child with achondroplasia highlighting five key physical characteristics\" \/>            <\/div>\n    <\/figure>\n\n<div id=\"acf-block-63f4e5ab17579\" class=\"block-wysiwyg\">\n            <p>Physical characteristics, such as height, are indicators of bone growth throughout the body.<\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"endochondral-bone-growth\" class=\"block split-content equal-bias\" data-muted-autoplay=\"false\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t                                                                <div class=\"content-block first-block\">\n                                                                                                                                                                                                                                                                                    \n                                    \n                                    \n                                    \n                                    <figure>\n                                        <div class=\"image\">\n                                                                                            <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/wp-content\/uploads\/sites\/2\/2023\/05\/90_icon_2.svg\" alt=\"\" \/>                                                                                    <\/div>\n                                                                            <\/figure>\n                                                                                    <\/div>\n                    \n                                            <div class=\"content-block second-block\">\n                                                                                                <h2>FGFR3 affects endochondral bone growth throughout the entire body<sup>9<\/sup><\/h2>\n<p><strong>Endochondral ossification<\/strong>, the replacement of cartilage by bone, occurs throughout the body and is involved in the development of roughly <strong>90% of all bones.<\/strong> This process begins in utero and continues into early adulthood.<sup>10-12<\/sup><\/p>\n                                                                                    <\/div>\n                                                \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"endochondral-bone-growth\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-63f4e5ab17618\" class=\"block-wysiwyg\">\n            <h2>Understanding endochondral bone growth at every level<\/h2>\n<p>In endochondral ossification, the precursor to prospective bone is cartilage<\/p>\n<h3>Cartilage growth plate (<em>without<\/em> pathogenic variant)<sup>9,13,14<\/sup><\/h3>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"new\" class=\"block split-content equal-bias bottom-border\" data-muted-autoplay=\"false\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t                                                                <div class=\"content-block first-block\">\n                                                                                                                                                                                                                                                                                    \n                                    \n                                                                                                                \n                                    \n                                    <figure>\n                                        <div class=\"image image-rounded\">\n                                                                                            <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/wp-content\/uploads\/sites\/2\/2022\/11\/cartilage_growth_plate_1@2x.jpg?v=0.122\" alt=\"Cartilage growth plate\" \/>                                                                                    <\/div>\n                                                                            <\/figure>\n                                                                                    <\/div>\n                    \n                                            <div class=\"content-block second-block\">\n                                                                                                <ul>\n<li>Cartilage is composed of chondrocytes and extracellular matrix<\/li>\n<li>Chondrocytes play a key role in endochondral ossification, directly contributing to the elongation of bones throughout development<\/li>\n<\/ul>\n                                                                                    <\/div>\n                                                \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"new-2\" class=\"block split-content equal-bias bottom-border\" data-muted-autoplay=\"false\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t                                                                <div class=\"content-block first-block\">\n                                                                                                                                                                                                                                                                                    \n                                    \n                                                                                                                \n                                    \n                                    <figure>\n                                        <div class=\"image image-rounded\">\n                                                                                            <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/wp-content\/uploads\/sites\/2\/2022\/11\/cartilage_growth_plate_2@2x.jpg?v=0.122\" alt=\"Image of cartilage growth plate without achondroplasia\" \/>                                                                                    <\/div>\n                                                                            <\/figure>\n                                                                                    <\/div>\n                    \n                                            <div class=\"content-block second-block\">\n                                                                                                \n<ul>\n<li>Chondrocytes result from the differentiation of embyronic mesenchymal cells<\/li>\n<li>Chondrocytes undergo proliferation<\/li>\n<\/ul>\n                                                                                    <\/div>\n                                                \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"new-3\" class=\"block split-content equal-bias bottom-border\" data-muted-autoplay=\"false\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t                                                                <div class=\"content-block first-block\">\n                                                                                                                                                                                                                                                                                    \n                                    \n                                                                                                                \n                                    \n                                    <figure>\n                                        <div class=\"image image-rounded\">\n                                                                                            <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/wp-content\/uploads\/sites\/2\/2022\/11\/cartilage_growth_plate_3@2x.jpg?v=0.122\" alt=\"Image of cartilage growth plate without achondroplasia\" \/>                                                                                    <\/div>\n                                                                            <\/figure>\n                                                                                    <\/div>\n                    \n                                            <div class=\"content-block second-block\">\n                                                                                                \n<ul>\n<li>Cartilage matrix is secreted<\/li>\n<li>Chondrocytes undergo hypertrophy, establishing a new extracellular matrix<\/li>\n<\/ul>\n                                                                                    <\/div>\n                                                \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-63f4e5ab176df\" class=\"block split-content equal-bias bottom-border\" data-muted-autoplay=\"false\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t                                                                <div class=\"content-block first-block\">\n                                                                                                <h2>Chondrocyte and CNP pathway (<em>without<\/em> pathogenic variant)<sup>15,16<\/sup><\/h2>\n<ul>\n<li>Two signaling pathways play an important role in regulating the function of chondrocytes<\/li>\n<li>FGFR3 activation signals to slow bone growth<\/li>\n<li>CNP (C-type natriuretic peptide) pathway counteracts FGFR3 signals<\/li>\n<li>Natriuretic peptide receptor B (NPRB) activation by CNP blocks the FGFR3 signal to sustain bone growth<\/li>\n<\/ul>\n                                                                                    <\/div>\n                    \n                                            <div class=\"content-block second-block\">\n                                                                                                                                                                                                                                                                                    \n                                    \n                                                                                                                \n                                    \n                                    <figure>\n                                        <div class=\"image image-rounded\">\n                                                                                            <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/wp-content\/uploads\/sites\/2\/2023\/02\/chondrocyte-cell-labels-80.png?v=0.122\" alt=\"\" \/>                                                                                    <\/div>\n                                                                            <\/figure>\n                                                                                    <\/div>\n                                                \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-63f4e5ab17704\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-63f4e5ab17716\" class=\"block-wysiwyg\">\n            <p>The gain-of-function pathogenic variant causes FGFR3 to excessively generate signals to slow down bone growth, overwhelming the counteracting signaling from the NPRB\/CNP pathway, and resulting in impaired bone growth.<sup>4,16<\/sup><\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-63f4e5ab17740\" class=\"block split-content equal-bias bottom-border\" data-muted-autoplay=\"false\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t                                                                <div class=\"content-block first-block\">\n                                                                                                <h3 style=\"text-align: center\">CNP pathway (<em>without<\/em> pathogenic variant)<\/h3>\n                                                                                                                                                                                                                                                                                                                    \n                                    \n                                                                                                                \n                                    \n                                    <figure>\n                                        <div class=\"image image-rounded\">\n                                                                                            <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/wp-content\/uploads\/sites\/2\/2023\/01\/cell1.png?v=0.122\" alt=\"\" \/>                                                                                    <\/div>\n                                                                            <\/figure>\n                                                                                    <\/div>\n                    \n                                            <div class=\"content-block second-block\">\n                                                                                                <h3 style=\"text-align: center\">CNP pathway\u00a0(<em>with<\/em> pathogenic variant)<\/h3>\n                                                                                                                                                                                                                                                                                                                    \n                                    \n                                                                                                                \n                                    \n                                    <figure>\n                                        <div class=\"image image-rounded\">\n                                                                                            <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/wp-content\/uploads\/sites\/2\/2023\/05\/cell_label.png?v=0.122\" alt=\"\" \/>                                                                                    <\/div>\n                                                                            <\/figure>\n                                                                                    <\/div>\n                                                \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-63f4e5ab1777b\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-63f4e5ab17789\" class=\"block-wysiwyg\">\n            <h2>Cartilage growth plates<\/h2>\n    <\/div>\n\n<figure id=\"acf-block-63f4e5ab1779a\">\n    <div class=\"image image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/wp-content\/uploads\/sites\/2\/2022\/11\/Cartilage-growth-plates_NEW@2X-1900x1089.png\" alt=\"\" \/>            <\/div>\n    <\/figure>\n\n<div id=\"acf-block-63f4e5ab177a7\" class=\"block-wysiwyg\">\n            <p>This leads to a multisystemic impact that parents may not be prepared for.<\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-63f4e5ab177c2\" 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    \t\t\t\t\t\t        <p>Most parents are of average stature, which means they may need your expertise to prepare them for the possible complications caused by impaired bone growth.<sup>4,17<\/sup><\/p>\n\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:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/international-consensus-statement\/\" target=\"_self\">Explore the International Consensus Statement<\/a><\/p>\n                            <\/div>\n\t\t\t\t\t                        <\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-6422fdc5d8590\" class=\"block boxed-content quiz block-tight-top block-tight-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n            <div class=\"box\">\n\t\t\t\t<div class=\"quiz-question\">\n                    \t\t\t\t\t    <h2><span class=\"Y2IQFc\">Test your knowledge<\/span>\n<\/h2>\n\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t    <p>Achondroplasia occurs in approximately _________ live births worldwide.<\/p>\n\t\t\t\t\t\n                                            <div class=\"quiz-question-responses\">\n                                                                                                                                                            <a class=\"button button-ghost\" href=\"#\" data-correct-answer=\"false\">\n                                    <span class=\"Y2IQFc\">1 in 1,000<\/span>\n                                <\/a>\n                                                                                                                                                            <a class=\"button button-ghost\" href=\"#\" data-correct-answer=\"true\">\n                                    1 in 25,000\n                                <\/a>\n                                                                                                                                                            <a class=\"button button-ghost\" href=\"#\" data-correct-answer=\"false\">\n                                    1 in 1,000,000\n                                <\/a>\n                                                                                                                                                            <a class=\"button button-ghost\" href=\"#\" data-correct-answer=\"false\">\n                                    1 in 200,000\n                                <\/a>\n                                                    <\/div>\n\t\t\t\t\t\n                                            <div class=\"quiz-question-submit\">\n                            <p><a class=\"button\" href=\"#\">Submit<\/a><\/p>\n                        <\/div>\n\t\t\t\t\t\t\t\t\t<\/div>\n\n\t\t\t\t<div class=\"quiz-answer\" style=\"display:none;\">\n\t\t\t\t    \t\t\t\t        \t\t\t\t\t    <p class=\"quiz-answer-choice\">Your choice: %choice%\n<\/p>\n\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t    <div class=\"split-content\">\n                            <div class=\"wrapper\">\n                                <div class=\"inner-wrapper\">\n                                    <div class=\"content-block\">\n                                                                                    <h2 class=\"correct\" style=\"display:none;\">That&#8217;s right!\n<\/h2>\n                                        \n                                                                                    <h2 class=\"incorrect\" style=\"display:none;\">That&#8217;s not it &#8211; The correct answer is %answer%\n<\/h2>\n                                        \n                                                                                    <p>Achondroplasia is rare, but it is the most common type of skeletal dysplasia, affecting 250,000 people worldwide<sup>1<\/sup> and occurring in approximately 1 in 25,000 live births<sup>2<\/sup>.<\/p>\n                                                                            <\/div>\n                                    <div class=\"content-block\">\n                                                                                    <figure>\n                                                <div class=\"image\">\n                                                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/wp-content\/uploads\/sites\/2\/2023\/03\/Screenshot_2023-03-29_at_09.43.33-removebg-preview.png?v=0.122\" alt=\"\" \/>                                                <\/div>\n                                            <\/figure>\n                                                                            <\/div>\n                                <\/div>\n                            <\/div>\n                        <\/div>\n\t\t\t\t\t\n\t\t\t\t\t                        <p class=\"references\">\n                            <a class=\"quiz-references-modal\" href=\"#quiz-references-modal\">References<\/a>\n                        <\/p>\n                        <div id=\"quiz-references-modal\" class=\"quiz-references white-popup-block mfp-hide\">\n                            <div class=\"box references\">\n                                <p><a class=\"modal-close\" href=\"#\">Close references<\/a><\/p>\n                                                                    <h2>References:\n<\/h2>\n                                                                <ol>\n                                                                                                                                                                                                        <li><span>Ireland PJ, Pacey V, Zankl A, Edwards P, Johnston LM, Savarirayan R. Optimal management of complications associated with achondroplasia.\u202fAppl Clin Genet. 2014;7:117-125. Published 2014 Jun 24. doi:10.2147\/TACG.S51485.\n<\/span><\/li>\n                                                                                                                                                                                                                                                <li><span>Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT. Mortality in achondroplasia study: a 42-year follow-up.\u202fAm J Med Genet A. 2007;143A(21):2502-2511. doi:10.1002\/ajmg.a.31919.\n<\/span><\/li>\n                                                                                                            <\/ol>\n                            <\/div>\n                        <\/div>\n\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t<\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-63f4e5ab177de\" class=\"block cards cards-2-col\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"cards-title\">\n\t\t\t    \t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"cards-wrapper\">\n\t\t\t    \n<div id=\"acf-block-63f4e5ab1781b\" class=\"card card-fixed-button\" data-muted-autoplay=\"false\">\n    \t    \n\n                    <img decoding=\"async\" class=\"card-image\" src=\"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/wp-content\/uploads\/sites\/2\/2022\/11\/Impact_Card.jpg?v=0.122\" alt=\"Silhouette of a child with achondroplasia highlighting five key physical characteristics\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>Achondroplasia complications\n<\/h4>\n        \n                                                                                                            <p>Common achondroplasia complications can be expected across an individual&#8217;s lifetime.<\/p>\n                                                                                                                                                                                                                                                                        \n                                                                                        <\/div>\n                                <div class=\"card-actions\">\n                            \n                            <p><a class=\"button button-text button-arrow\" href=\"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/impact\/\" target=\"_self\">Learn more about achondroplasia complications<\/a><\/p>\n                                                                                    <\/div>\n<\/div>\n\n<div id=\"acf-block-63f4e5ab17839\" class=\"card card-fixed-button\" data-muted-autoplay=\"false\">\n    \t    \n\n                    <img decoding=\"async\" class=\"card-image\" src=\"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/wp-content\/uploads\/sites\/2\/2022\/11\/Complication-Timeline-Resource-Group-4070_2X-B.png?v=0.122\" alt=\"\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>Resource library\n<\/h4>\n        \n                                                                                                            <p>Everything you need to deepen your achondroplasia knowledge <\/p>\n                                                                                                                                                                                                                                                                        \n                                                                                        <\/div>\n                                <div class=\"card-actions\">\n                            \n                            <p><a class=\"button button-text button-arrow\" href=\"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/resources\/\" target=\"_self\">Access achondroplasia fact sheets and resources<\/a><\/p>\n                                                                                    <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-63f4e5ab17897\" class=\"block references\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t    \t\t\t    <h4>References:\n<\/h4>\n\t\t\t\t\t\t                <ol>\n                                                                                                                        <li><span>Ireland PJ, Pacey V, Zankl A, Edwards P, Johnston LM, Savarirayan R. Optimal management of complications associated with achondroplasia. <em>Appl Clin Genet<\/em>. 2014;7:117-125. Published online June 24, 2014.\n<\/span><\/li>\n                                                                                                                                                <li><span>Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT. Mortality in achondroplasia study: a 42-year follow-up. <em>Am J Med Genet A<\/em>. 2007;143A:2502-2511. \n<\/span><\/li>\n                                                                                                                                                <li><span>Waller DK, Correa A, Vo TM, <em>et al<\/em>. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. <em>Am J Med Genet A<\/em>. 2008;146A(18):2385-2389.\n<\/span><\/li>\n                                                                                                                                                <li><span>Pauli RM. Achondroplasia: a comprehensive clinical review. <em>Orphanet J Rare Dis<\/em>. 2019;14(1):1. \n<\/span><\/li>\n                                                                                                                                                <li><span>Laederich MB, Horton WA. Achondroplasia: pathogenesis and implications for future treatment. <em>Curr Opin Pediatr<\/em>. 2010;22(4):516-523. \n<\/span><\/li>\n                                                                                                                                                <li><span>Hoover-Fong J, Scott CI, Jones MC; Committee on Genetics. Health supervision for people with achondroplasia. <em>Pediatrics<\/em>. 2020;145(6):e20201010. \n<\/span><\/li>\n                                                                                                                                                <li><span>Chilbule SK, Dutt V, Madjhuri V. Limb lengthening in achondroplasia. <em>Indian J Orthop<\/em>. 2016;50(4):397-405. \n<\/span><\/li>\n                                                                                                                                                <li><span>Hoover-Fong J, Schulze KJ, McGready J, Barnes H, Scott CI. Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height. <em>Am J Clin Nutr<\/em>. 2008;88:364-371. \n<\/span><\/li>\n                                                                                                                                                <li><span>Matsushita T, Wilcox WR, Chan YY, <em>et al<\/em>. FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway. <em>Hum Mol Genet<\/em>. 2009;18(2):227-240. \n<\/span><\/li>\n                                                                                                                                                <li><span>Berendsen AD, Olsen BR. Bone development. Bone. 2015;80:14-18.\n<\/span><\/li>\n                                                                                                                                                <li><span>Clarke B. Normal bone anatomy and physiology. <em>Clin J Am Soc Nephrol<\/em>. 2008;3(Suppl 3):S131-S139. \n<\/span><\/li>\n                                                                                                                                                <li><span>Hill MA. Musculoskeletal system &#8211; bone development timeline. Embryology. June 19, 2020. Accessed December 5, 2024. https:\/\/embryology.med.unsw.edu.au\/embryology\/index.php\/Musculoskeletal_System_-_Bone_Development_Timeline. \n<\/span><\/li>\n                                                                                                                                                <li><span>Xie Y, Zhou S, Chen H, Du X, Chen L. Recent research on the growth plate: advances in fibroblast growth factor signaling in growth plate development and disorders. <em>J Mol Endocrinol<\/em>. 2014;53(1):T11-T34. \n<\/span><\/li>\n                                                                                                                                                <li><span>Mackie EJ, Tatarczuch L, Mirams M. The skeleton: a multi-functional complex organ: the growth plate chondrocyte and endochondral ossification. <em>J Endocrinol<\/em>. 2011;211(2):109-121. \n<\/span><\/li>\n                                                                                                                                                <li><span>Horton WA, Hall JG, Hecht JT. Achondroplasia. <em>Lancet<\/em>. 2007;370(9582):162-172. \n<\/span><\/li>\n                                                                                                                                                <li><span>Vasques GA, Arnhold IJ, Jorge AA. Role of the natriuretic peptide system in normal growth and growth disorders. <em>Horm Res Paediatr<\/em>. 2014;82(4):222-229.\n<\/span><\/li>\n                                                                                                                                                <li><span>Hecht JT, Bodensteiner JB, Butler IJ. Neurologic manifestations of achondroplasia. <em>Handb Clin Neurol<\/em>. 2014;119:551-563. \n<\/span><\/li>\n                                                            <\/ol>\n\t\t\t\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-6422ff85c5c45\" class=\"block print-page\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n            <p><a class=\"button button-print\" href=\"#\">Print this page<\/a><\/p>\n        <\/div>\n    <\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":4,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-17","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>What Causes Achondroplasia? | FGFR3 Gene Mutation<\/title>\n<meta name=\"description\" content=\"Explore causes of Achondroplasia and see how mutation in the fgfr3 gene impairs regular endochondral bone growth and results in skeletal dysplasia.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/cause\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"What Causes Achondroplasia? 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