{"id":11,"date":"2023-07-05T17:19:08","date_gmt":"2023-07-05T17:19:08","guid":{"rendered":"https:\/\/achdsepatient-dev-001.azurewebsites.net\/en-us\/?page_id=11"},"modified":"2026-07-29T15:32:30","modified_gmt":"2026-07-29T15:32:30","slug":"home","status":"publish","type":"page","link":"https:\/\/hcp.biomarin.com\/en-us\/hypochondroplasia\/","title":{"rendered":"Home"},"content":{"rendered":"<div id=\"acf-block-6a3d2e68002d7\" 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\/hypochondroplasia\/wp-content\/uploads\/sites\/2\/2026\/07\/HCH_website_Desktop_Hero_crop-1472x800.png);\"><\/div>\n\t    <div class=\"hero-background-image hero-background-image-mobile\" style=\"background-image: url(https:\/\/hcp.biomarin.com\/en-us\/hypochondroplasia\/wp-content\/uploads\/sites\/2\/2026\/06\/01_Hero_mobile.png?v=1.0);\"><\/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>Building a better understanding of hypochondroplasia\n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t    <p>Hypochondroplasia is a rare and heterogeneous condition that impacts health, function, and daily life for patients and their families.<sup>1,2<\/sup><\/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=\"acf-block-6a3d2e68004d9\" class=\"block call-to-action call-to-action-no-bg block-zero-top block-zero-bottom\">\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\">Stay updated on hypochondroplasia\n<\/h2>\n\t\t\t\t\t\t    \t\t\t\t\t\t    \t\t\t\t\t\t        <p><span class=\"intro-text\">Sign up to receive information about hypochondroplasia care, educational resources, and the latest research sent directly to your inbox.<\/span><\/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 smoothscroll button-ghost button-arrow\" href=\"#stay-updated\" target=\"_self\">Sign up<\/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-6a3d2e68005fe\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6a3d2e68006e9\" class=\"block-wysiwyg\">\n            <h2>What is hypochondroplasia?<\/h2>\n<p><span class=\"intro-text\">Hypochondroplasia is a rare genetic skeletal dysplasia that inhibits bone growth throughout the body.<sup>1,3-7<\/sup><\/span><\/p>\n<p><span class=\"intro-text\">The effects of the condition can include <strong>disproportionate short stature, functional limitations, and potential multisystemic complications<\/strong>, all of which can vary in severity from person to person and can adversely <strong>affect quality of life<\/strong>.<sup>1,2,7-11<\/sup><\/span><\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a3d2e6801004\" 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 image-rounded\">\n                                                                                            <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/hypochondroplasia\/wp-content\/uploads\/sites\/2\/2026\/06\/02_The_effects_of_hypochondroplasia.png?v=1.0\" alt=\"Medical graphic showing bones with inhibited growth from hypochondroplasia, a rare genetic skeletal dysplasia.\" \/>                                                                                    <\/div>\n                                                                            <\/figure>\n                                                                                    <\/div>\n                    \n                                            <div class=\"content-block second-block\">\n                                                                                                <h3>The effects of hypochondroplasia<\/h3>\n<p>Bone growth occurs for a limited time\u2014before birth until late adolescence\/early adulthood. In hypochondroplasia, a signaling imbalance in cartilage cells causes <strong>endochondral bone growth to be inhibited throughout the body<\/strong>.<sup>1,4-7,12,27,28<\/sup><\/p>\n<h4>Early recognition for timely intervention<\/h4>\n<p>Children with short stature (&gt;2 standard deviations below the mean) who also present with at least one of the following <strong>red flag* clinical features<\/strong> should be further evaluated for potential hypochondroplasia<sup>1,29-31<\/sup>:<\/p>\n<ul>\n<li>Disproportionate growth<\/li>\n<li>Relative macrocephaly<\/li>\n<li>Midface hypoplasia (frontal bossing)<\/li>\n<li>Short arms and legs (rhizomelia\/mesomelia)<\/li>\n<li>Bowed legs (genu varum)<\/li>\n<li>Brachydactyly<\/li>\n<\/ul>\n<p>If you observe any of these red flags, your patient\u2019s diagnosis may go beyond short stature, and<strong> genetic testing may be necessary<\/strong>.<sup>1,31<\/sup><\/p>\n<p><small>*Red flags refer to clinical features that may raise suspicion for hypochondroplasia and prompt further evaluation, including consideration of genetic testing. Features shown are not intended to represent all possible manifestations.<sup>1,31<\/sup><\/small><\/p>\n                                                                                    <\/div>\n                                                \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-6a428b9d05abb\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6a428b9d05acf\" class=\"block-wysiwyg\">\n            <h4 style=\"text-align: center\">Early confirmation of a hypochondroplasia diagnosis can help inform proactive approaches to care and improve patient outcomes.<sup>1<\/sup><\/h4>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a3d2e6801172\" class=\"block cards cards-3-col bg-band bg-band-alternative block-zero-bottom block-remove-bottom-padding\">\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    <h2>Multisystemic complications\n<\/h2>\n\t\t\t\t\t\t\t\t\t\t\t\t    <p><span class=\"intro-text\">Beyond the common clinical features, including disproportionate short stature, hypochondroplasia can be associated with multisystemic complications that can impact various aspects of health, development, and daily functioning.<sup>1,10,11<\/sup><\/span><\/p>\n\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-6a3d2e6801565\" class=\"card\" data-muted-autoplay=\"false\">\n    \t    \n\n                    <img decoding=\"async\" class=\"card-image\" src=\"https:\/\/hcp.biomarin.com\/en-us\/hypochondroplasia\/wp-content\/uploads\/sites\/2\/2026\/06\/03_Multisystemic_Skeletal.png?v=1.0\" alt=\"\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>Skeletal\n<\/h4>\n        \n                                                                                                            <ul>\n<li>Relative macrocephaly<\/li>\n<li>Scoliosis<\/li>\n<li>Lumbar lordosis<\/li>\n<li>Spinal stenosis<\/li>\n<li>Genu varum<\/li>\n<\/ul>\n                                                                                    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a3d2e68015ba\" class=\"card\" data-muted-autoplay=\"false\">\n    \t    \n\n                    <img decoding=\"async\" class=\"card-image\" src=\"https:\/\/hcp.biomarin.com\/en-us\/hypochondroplasia\/wp-content\/uploads\/sites\/2\/2026\/06\/03_Multisystemic_Otolaryngologic.png?v=1.0\" alt=\"\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>Otolaryngologic\n<\/h4>\n        \n                                                                                                            <ul>\n<li>Otitis media<\/li>\n<li>Conductive hearing loss<\/li>\n<li>Obstructive sleep apnea<\/li>\n<\/ul>\n                                                                                    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a3d2e68015ed\" class=\"card\" data-muted-autoplay=\"false\">\n    \t    \n\n                    <img decoding=\"async\" class=\"card-image\" src=\"https:\/\/hcp.biomarin.com\/en-us\/hypochondroplasia\/wp-content\/uploads\/sites\/2\/2026\/06\/03_Multisystemic_Neurological.png?v=1.0\" alt=\"\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>Neurological\n<\/h4>\n        \n                                                                                                            <ul>\n<li>Neurological disorders (eg, epilepsy)<\/li>\n<li>Neurocognitive issues<\/li>\n<li>Intellectual disability<\/li>\n<li>Hydrocephalus<\/li>\n<\/ul>\n                                                                                    <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-6a428b9d06025\" class=\"block wrapped-content bg-band bg-band-alternative block-zero-top\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6a428b9d06035\" class=\"block-wysiwyg\">\n            <h4 style=\"text-align: center\">Multisystemic complications can contribute to psychological stress, anxiety, and depression\u2014each associated with lower patient- and caregiver-reported quality of life.<sup>1,8,32<\/sup><\/h4>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a3d2e6801671\" 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                                                                                                <h2>The underlying genetic cause<\/h2>\n<p>Hypochondroplasia is caused by <strong>gain-of-function variants in the <em>fibroblast growth factor receptor 3<\/em> (<em>FGFR3<\/em>) gene<\/strong> that lead to <strong>overactive FGFR3 signaling<\/strong> (slows bone growth) relative to C-type natriuretic peptide (CNP) signaling (promotes bone growth) in chondrocytes.<sup>1,27,33<\/sup><\/p>\n<ul>\n<li>The <em>FGFR3<\/em> gene is expressed throughout the body (including the brain) but mainly functions as a negative regulator of endochondral bone growth (cartilage developing into bone)<sup>4<\/sup><\/li>\n<li><strong>Heterogeneous genetic profile:<\/strong> The <strong>N540K variant<\/strong> in the intracellular tyrosine kinase domain of FGFR3 is the most common pathogenic variant (accounts for ~50%-70% of hypochondroplasia cases), but a broad spectrum of variants are also associated with the condition, with more being discovered<sup>1,33,34<\/sup><\/li>\n<li>Most cases result from a spontaneous <strong><em>de novo<\/em> genetic change,<\/strong> with a minority inheriting the gene variant from one or both parents through an <strong>autosomal dominant pattern<\/strong><sup>1<\/sup><\/li>\n<\/ul>\n                                                                                    <\/div>\n                    \n                                            <div class=\"content-block second-block\">\n                                                                                                                                                                                                                                                                                    \n                                    \n                                    \n                                    \n                                    <figure>\n                                        <div class=\"image\">\n                                                                                            <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/hypochondroplasia\/wp-content\/uploads\/sites\/2\/2026\/06\/Underlying_genetic_cause.png?v=1.0\" alt=\"Medical graphic of the imbalance between FGFR3 and CNP cell signaling leading to inhibited bone growth.\" \/>                                                                                    <\/div>\n                                                                            <\/figure>\n                                                                                    <\/div>\n                                                \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-6a3d2e6801692\" class=\"block wrapped-content bg-band bg-band-tertiary block-zero-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6a428b9d0628d\" 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:\/\/hcp.biomarin.com\/en-us\/hypochondroplasia\/wp-content\/uploads\/sites\/2\/2026\/06\/Discover_Dysplasia.png?v=1.0\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h2>Hypochondroplasia care begins with confirmation<\/h2>\n                            <p>Due to its heterogeneous presentation and overlapping symptoms with other skeletal conditions, hypochondroplasia can often be underrecognized or misdiagnosed. Delayed diagnosis of skeletal dysplasias can prevent healthcare professionals from educating caregivers on what health impacts to expect from a specific condition and identifying opportunities for proactive care.<sup>1,2,30,35<\/sup><\/p>\n<h4>No-charge genetic testing<\/h4>\n<p>Healthcare providers can learn more about the Discover Dysplasias\u2122 program, which offers sponsored <strong>genetic testing and counseling for eligible individuals 16 years of age or younger<\/strong> suspected of having a skeletal dysplasia.<\/p>\n<p><a class=\"button button-text button-external\" href=\"https:\/\/www.invitae.com\/sponsored-testing\/discover-dysplasias\" target=\"_blank\" rel=\"noopener\">Visit the Discover Dysplasias\u2122\u00a0website to learn more<\/a><\/p>\n                    <\/div>\n<\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a428e9c4f89c\" class=\"block wrapped-content bg-band bg-band-alternative block-zero-top block-zero-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6a428e9c4f982\" class=\"block-wysiwyg\">\n            <h2>Specialized care for unique health needs<\/h2>\n<p>Management of hypochondroplasia may require proactive and lifelong care by a multidisciplinary team to help address unique health needs. <strong>Timely and experienced care can meaningfully contribute to positive patient outcomes.<\/strong><sup>1,30<\/sup><\/p>\n<p>The foundation of patient care should include growth specialists to identify health needs specific to hypochondroplasia, pediatricians to track development and help families navigate adaptive interventions, along with other specialties to address health complications that may arise and change throughout development.<sup>1,7<\/sup><\/p>\n    <\/div>\n\n<figure id=\"acf-block-6a428e9c4faaa\">\n    <div class=\"image image-responsive image-rounded image-align-left\">\n                    <div class=\"image-desktop\">\n\t\t\t    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/hypochondroplasia\/wp-content\/uploads\/sites\/2\/2026\/06\/Multi-Disciplinary.png?v=1.0\" alt=\"\" \/>\t\t\t<\/div>\n\t\t\t<div class=\"image-mobile\">\n\t\t\t    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/hypochondroplasia\/wp-content\/uploads\/sites\/2\/2026\/06\/Multi-Disciplinary_Mobile-scaled.png?v=1.0\" alt=\"\" \/>\t\t\t<\/div>\n            <\/div>\n    <\/figure>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a428e9c4facd\" class=\"block wrapped-content bg-band bg-band-primary block-zero-top\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6a428e9c4fb0a\" class=\"image-text-block content-align-center block-zero-top\">\n            <div class=\"image-block medium\">\n            <figure>\n                <div class=\"image image-rounded\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/hypochondroplasia\/wp-content\/uploads\/sites\/2\/2026\/06\/Microscope.png?v=1.0\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h4>The latest hypochondroplasia research and clinical developments<\/h4>\n                            <p><span class=\"intro-text\">Currently there are no FDA-approved treatments for hypochondroplasia that target the cause of inhibited bone growth. Existing treatment options, such as supportive care or surgeries, focus on the management of symptoms. However, there are clinical trials currently underway that may soon offer more options for care.<sup>1,3,27<\/sup><\/span><\/p>\n                                            <p><a class=\"button smoothscroll button-text button-arrow\" href=\"#stay-updated\" target=\"_self\">Sign up to receive updates<\/a><\/p>\n                        <\/div>\n<\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a428e9c4fc45\" 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    <h2>Hypochondroplasia resources\n<\/h2>\n\t\t\t\t\t\t\t\t\t\t\t\t    <p><span class=\"intro-text\">Download helpful tools and educational materials for additional information about hypochondroplasia.<\/span><\/p>\n\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-6a428e9c4ffea\" 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\/hypochondroplasia\/wp-content\/uploads\/sites\/2\/2026\/06\/Guide.png?v=1.0\" alt=\"\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>Hypochondroplasia: A guide for parents\n<\/h4>\n        \n                                                                                                            <p>A collection of insights and experiences of families living with hypochondroplasia.<sup>2<\/sup><\/p>\n                                                                                                                                                                                                                                                                        \n                                                                                        <\/div>\n                                <div class=\"card-actions\">\n                            \n                            <p><a class=\"button button-text button-arrow\" href=\"https:\/\/hypochondroplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/Hypochondroplasia-Handbook-A-Guide-for-Parents_Eng.pdf?v=1.26\" target=\"_blank\">Download<\/a><\/p>\n                                                                                    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a50f2d004762\" 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\/hypochondroplasia\/wp-content\/uploads\/sites\/2\/2026\/07\/HCH-info-sheet.png?v=1.0\" alt=\"\" \/>        \n\t    <div class=\"card-content\">\n                            <h4>Hypochondroplasia information sheet\n<\/h4>\n        \n                                                                                                            <p>Information on how hypochondroplasia occurs, common complications, and the importance of specialized care.<sup>1<\/sup><\/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\/hypochondroplasia\/wp-content\/uploads\/sites\/2\/2026\/07\/BIM-HCH-Leave-Behind.pdf?v=1.0\" target=\"_blank\">Download<\/a><\/p>\n                                                                                    <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"stay-updated\" class=\"block stay-updated-form bg-band bg-band-alternative\">\n 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          <\/div>\n                    <\/form>\n                    <form id=\"mktoForm_3470\" style=\"display:none;\"><\/form>\n\n                    <div class=\"thank-you\" style=\"display:none;\">\n                                                    <h3>Thank you!<\/h3>\n<p>We\u2019ll be in touch soon with additional information.<\/p>\n                        \n                        \n                            <a href=\"https:\/\/hypochondroplasiahcp-prd-001-gtgqc6brexcmbucn.westus2-01.azurewebsites.net\/en-us\/hypochondroplasia\/\" class=\"button button-arrow\" target=\"\">Continue learning<\/a>\n                                            <\/div>\n                <\/div>\n            <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a428e9c5026b\" 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>Bober MB, Bellus GA, Cheung MS, et al. Hypochondroplasia. In GeneReviews<sup>\u00ae<\/sup> [Internet]. 1999 (updated September 25, 2025). Accessed May 14, 2026. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1477\/\n<\/span><\/li>\n                                                                                                                                                <li><span>Oehrlein EM, Pekala R, Cavallaro S, et al. Living with hypochondroplasia: a qualitative exploration of children&#8217;s and caregivers&#8217; experiences, challenges, and unmet needs. <em>Mol Genet Genomic Med<\/em>. 2025;13(11):e70151.\n<\/span><\/li>\n                                                                                                                                                <li><span>Kim HY, Ko JM. Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood. <em>Ann Pediatr Endocrinol Metab<\/em>. 2022;27(2):90-97.\n<\/span><\/li>\n                                                                                                                                                <li><span>Foldynova-Trantirkova S, Wilcox WR, Krejci P. Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. <em>Hum Mutat<\/em>. 2012;33(1):29-41.\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>Clarke B. Normal bone anatomy and physiology. <em>Clin J Am Soc Nephrol<\/em>. 2008;3 Suppl 3(Suppl 3):S131-S139.\n<\/span><\/li>\n                                                                                                                                                <li><span>Cheung MS, Cole TJ, Arundel P, et al. Growth reference charts for children with hypochondroplasia. <em>Am J Med Genet A<\/em>. 2024;194(2):243-252.\n<\/span><\/li>\n                                                                                                                                                <li><span>Fagereng E, Htwe S, McDonald S, et al. Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study. <em>Orphanet J Rare Dis<\/em>. 2025;20(1):116.\n<\/span><\/li>\n                                                                                                                                                <li><span>Galetaki D, Zhang A, Rangos N, et al. Parental perception of quality of life and impact of short stature in children with hypochondroplasia and other genetic causes of short stature. <em>Horm Res Paediatr<\/em>. 2025;17:1-9.\n<\/span><\/li>\n                                                                                                                                                <li><span>Doherty M, Hertel NT, Hove HB, et al. Neurological symptoms, evaluation and treatment in Danish patients with achondroplasia and hypochondroplasia. <em>J Rare Dis Res Treat<\/em>. 2017;2:25-32.\n<\/span><\/li>\n                                                                                                                                                <li><span>Linnankivi T, M\u00e4kitie O, Valanne L, Toiviainen-Salo S. Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. <em>Am J Med Genet A<\/em>. 2012;158A(12):3119-3125.\n<\/span><\/li>\n                                                                                                                                                <li><span>Breeland G, Sinkler MA, Menezes RG. Embryology, bone ossification. In: StatPearls. StatPearls Publishing; 2023. Accessed May 14, 2026. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK539718\/\n<\/span><\/li>\n                                                                                                                                                <li><span>Berendsen AD, Olsen BR. Bone development. <em>Bone<\/em>. 2015;80:14-18.\n<\/span><\/li>\n                                                                                                                                                <li><span>Johns Hopkins Medicine. Anatomy of the bone. Accessed May 14, 2026. https:\/\/www.hopkinsmedicine.org\/health\/wellness-and-prevention\/anatomy-of-the-bone\n<\/span><\/li>\n                                                                                                                                                <li><span>Jin SW, Sim KB, Kim SD. Development and growth of the normal cranial vault: an embryologic review. <em>J Korean Neurosurg Soc<\/em>. 2016;59(3):192-196.\n<\/span><\/li>\n                                                                                                                                                <li><span>Encyclopaedia Britannica. Science &amp; Tech. Clavicle. Accessed May 14, 2026. https:\/\/www.britannica.com\/science\/clavicle\n<\/span><\/li>\n                                                                                                                                                <li><span>Encyclopaedia Britannica. Science &amp; Tech. Skull. Accessed May 14, 2026. https:\/\/www.britannica.com\/science\/skull\n<\/span><\/li>\n                                                                                                                                                <li><span>Hall R, Beals K, Neumann H, et al. <em>Introduction to Human Osteology<\/em>. Grand Valley State University; 2008.\n<\/span><\/li>\n                                                                                                                                                <li><span>Anderson BW, Kortz MW, Black AC, et al. Anatomy, head and neck, skull. In: StatPearls. StatPearls Publishing; 2023. Accessed May 14, 2026. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK499834\/\n<\/span><\/li>\n                                                                                                                                                <li><span>Cowan PT, Launico MV, Kahai P. Anatomy, bones. In: StatPearls. StatPearls Publishing; 2024. Accessed May 14, 2026. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK537199\/\n<\/span><\/li>\n                                                                                                                                                <li><span>Hsieh YL, Wei X, Wang Y, et al. Chondrocyte Tsc1 controls cranial base bone development by restraining the premature differentiation of synchondroses. <em>Bone<\/em>. 2021;153:116142.\n<\/span><\/li>\n                                                                                                                                                <li><span>Musculoskeletal Key. Cranial and pelvic \u201cvertebrae\u201d are they real vertebrae? Accessed May 14, 2026. https:\/\/musculoskeletalkey.com\/cranial-and-pelvic-vertebrae-are-they-real-vertebrae\/\n<\/span><\/li>\n                                                                                                                                                <li><span>Young M, Selleri L, Capellini TD. Genetics of scapula and pelvis development: an evolutionary perspective. <em>Curr Top Dev Biol<\/em>. 2019;132:311-349.\n<\/span><\/li>\n                                                                                                                                                <li><span>Yu M, Wang SM. Anatomy, head and neck, ethmoid bone. In: StatPearls. StatPearls Publishing; 2025. Accessed May 14, 2026. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK544328\/\n<\/span><\/li>\n                                                                                                                                                <li><span>\u00c7ankaya H, Egeli E, Kutluhan A, Kiri\u015f M. Pneumatization of the concha inferior as a cause of nasal obstruction. <em>Rhinology<\/em>. 2001;39(2):109-111.\n<\/span><\/li>\n                                                                                                                                                <li><span>Mitomo K, Matsunaga S, Kitamura K, et al. Sphenoid bone hypoplasia is a skeletal phenotype of cleidocranial dysplasia in a mouse model and patients. <em>Bone<\/em>. 2019;120:176-186.\n<\/span><\/li>\n                                                                                                                                                <li><span>Allen DB, Merchant N, Miller BS, Backeljauw PF. Evolution and future of growth plate therapeutics. <em>Horm Res Paediatr<\/em>. 2021;94(9-10):319-332.\n<\/span><\/li>\n                                                                                                                                                <li><span>Lorget F, Kaci N, Peng J, et al. Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. <em>Am J Hum Genet<\/em>. 2012;91(6):1108-1114.\n<\/span><\/li>\n                                                                                                                                                <li><span>Sharma L, Rani D, Kanchan T, Krishan K. Short stature. In: StatPearls. StatPearls Publishing; 2026. Accessed May 14, 2026. https:\/\/pubmed.ncbi.nlm.nih.gov\/32310491\/\n<\/span><\/li>\n                                                                                                                                                <li><span>Sabir AH, Sheikh J, Singh A, et al. Earlier detection of hypochondroplasia: a large single-center UK case series and systematic review. <em>Am J Med Genet A<\/em>. 2021;185(1):73-82.\n<\/span><\/li>\n                                                                                                                                                <li><span>Data on file [1]. BioMarin Pharmaceutical Inc; 2025.\n<\/span><\/li>\n                                                                                                                                                <li><span>Rangos N, Dwivedi P, Boucher K, et al. Abstracts of the 2023 Pediatric Endocrine Society (PES) Annual Meeting [Abstract 6206]. <em>Horm Res Paediatr<\/em>. 2023;96(suppl 3):195-197.\n<\/span><\/li>\n                                                                                                                                                <li><span>Irving M, Greco E, Cocca A, et al. Pathways to facilitate early recognition and diagnosis of hypochondroplasia. <em>Adv Ther<\/em>. 2026;43(5):2018-2033.\n<\/span><\/li>\n                                                                                                                                                <li><span>Ramos Mej\u00eda R, Aza-Carmona M, Del Pino M, et al. Clinical and radiologic evaluation of an individual with hypochondroplasia and a novel FGFR3 mutation. <em>J Pediatr Genet<\/em>. 2020;9(1):48-52.\n<\/span><\/li>\n                                                                                                                                                <li><span>Meyer MF, Menken KU, Zimny S, Hellmich B, Schatz H. Pitfall in diagnosing growth hormone deficiency in a hypochondroplastic patient with a delayed puberty. <em>Exp Clin Endocrinol Diabetes<\/em>. 2003;111(3):177-181.\n<\/span><\/li>\n                                                            <\/ol>\n\t\t\t\t\t<\/div>\n\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":3,"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-11","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Hypochondroplasia Developmental Impacts and Care Options<\/title>\n<meta name=\"description\" content=\"Learn how heterogeneous FGFR3 variants in hypochondroplasia lead to inhibited bone growth, potential complications, and quality of life burden. 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