{"id":5347,"date":"2026-06-09T13:33:42","date_gmt":"2026-06-09T13:33:42","guid":{"rendered":"https:\/\/hypochondroplasia.biomarin.com\/en-us\/?page_id=5347"},"modified":"2026-06-30T08:14:51","modified_gmt":"2026-06-30T08:14:51","slug":"about-hypochondroplasia","status":"publish","type":"page","link":"https:\/\/hypochondroplasia.biomarin.com\/en-us\/about-hypochondroplasia\/","title":{"rendered":"About Hypochondroplasia"},"content":{"rendered":"<div id=\"acf-block-6a33fa72477d7\" class=\"hero hero-split\">\n\t<div class=\"split-hero-text-area\">\n\t\t<div class=\"split-hero-text-content\">\n\t\t    \t\t\t                            <h1>About hypochondroplasia\n<\/h1>\n                                        <p>Get a deeper understanding of what hypochondroplasia is, how it&#8217;s diagnosed, and the ways it may impact your child\u2019s growth, development, and health.<\/p>\n                                        <p><a class=\"button button-arrow\" href=\"https:\/\/hypochondroplasia.biomarin.com\/en-us\/stay-connected\/\" target=\"_self\">Stay connected<\/a><\/p>\n            \t\t<\/div>\n\t<\/div>\n\t<div class=\"split-hero-image desktop-image\" style=\"background-image: url(https:\/\/hypochondroplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/hch-about-hero-cropped.png?v=1.26);\">\n\t\t\t<\/div>\n    <div class=\"split-hero-image mobile-image\" style=\"background-image: url(https:\/\/hypochondroplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/hch-about-hero-mobile.png?v=1.26);\">\n            <\/div>\n<\/div>\n\n<div id=\"acf-block-6a28194652d67\" class=\"block wrapped-content bg-band bg-band-white\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6a2819465305a\" class=\"block-wysiwyg\">\n            <h2 style=\"text-align: center\">What is hypochondroplasia?<\/h2>\n<p style=\"text-align: center\">Hypochondroplasia is a type of <strong>skeletal dysplasia<\/strong>, a rare genetic condition that inhibits bone growth.<br \/>\nIt impacts each person differently and every family\u2019s needs are unique.<\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a281946546fe\" class=\"block split-content equal-bias bg-band bg-band-primary block-zero-bottom\" 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:\/\/hypochondroplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/diagnosing-hch-sharp-corners.png?v=1.26\" alt=\"\" \/>                                                                                    <\/div>\n                                                                            <\/figure>\n                                                                                    <\/div>\n                    \n                                            <div class=\"content-block second-block\">\n                                                                                                <h2>Diagnosing hypochondroplasia<\/h2>\n<p>Hypochondroplasia is rare and can look different for each person, which means the journey to diagnosis can vary. Most children with hypochondroplasia are born to average-stature parents\u2014fewer have one or both parents with the condition.<\/p>\n<h5>Initial challenges to diagnosis<\/h5>\n<p>Doctors may not always be familiar with hypochondroplasia, think a child is just \u201cnaturally small,\u201d or that their delayed growth is due to a different condition.<\/p>\n<h5>Confirming a diagnosis<\/h5>\n<p>A hypochondroplasia diagnosis is confirmed through genetic testing, which can be the first step in getting answers to help your child and ensure they&#8217;re receiving the proper care.<\/p>\n<h5>Navigating a diagnosis<\/h5>\n<p>It\u2019s important to speak with your doctor about connecting with the <a href=\"https:\/\/hypochondroplasia.biomarin.com\/en-us\/care-and-management\/#connecting-with-experienced-care-team\">right specialists,<\/a> understanding your <a href=\"https:\/\/hypochondroplasia.biomarin.com\/en-us\/care-and-management\/#management-and-ongoing-research\">management options,<\/a>\u00a0and <a href=\"https:\/\/hypochondroplasia.biomarin.com\/en-us\/community-and-resources\/#downloadable-resources\">finding resources<\/a> to support both you and your child.<\/p>\n                                                                                    <\/div>\n                                                \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-6a2837f3c1c12\" class=\"wavy-divider light-orange\"><\/div>\n\n<div id=\"acf-block-6a28194654a40\" class=\"block wrapped-content bg-band bg-band-tertiary block-zero-top block-zero-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6a28194654a62\" class=\"block-wysiwyg\">\n            <h2 style=\"text-align: center\">A CLOSER LOOK AT HYPOCHONDROPLASIA<\/h2>\n    <\/div>\n\n<div id=\"acf-block-6a28194654e90\" 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:\/\/hypochondroplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/cause-Green-section-1-e1781530629808.png?v=1.26\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>The cause\n<\/h3>\n                            <p>Hypochondroplasia is caused by a change in a <strong>gene called <em>fibroblast growth factor receptor 3<\/em> or <em>FGFR3<\/em><\/strong>. The <em>FGFR3<\/em> gene:<\/p>\n<ul>\n<li>Mostly controls how cartilage develops into bones<\/li>\n<li>Helps growth in different body parts<\/li>\n<\/ul>\n<p>This permanent genetic change can happen in different places on the <em>FGFR3<\/em> gene, which is one reason why hypochondroplasia can look different for each person and affect health in unique ways.<\/p>\n                    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a292310865c9\" 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:\/\/hypochondroplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/impact-on-bone-growth-Green-section-1-e1781530652432.png?v=1.26\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>Impact on bone growth\n<\/h3>\n                            <p><strong>Bones grow for a limited time<\/strong>\u2014before birth until late adolescence\/early adulthood. No matter how the <em>FGFR3<\/em> gene is changed in hypochondroplasia, it results in <strong>overactive <em>FGFR3<\/em> cell signaling<\/strong> that causes:<\/p>\n<ul>\n<li>Slowed or inhibited bone growth throughout the body (how much differs between people)<\/li>\n<li>Reduced and disproportionate growth (shorter limbs compared to torso)<\/li>\n<\/ul>\n                    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a29231086644\" 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:\/\/hypochondroplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/development-Green-section-1-e1781530672646.png?v=1.26\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>Development and functioning\n<\/h3>\n                            <p>In addition to affecting stature, hypochondroplasia can also impact other aspects of development such as:<\/p>\n<ul>\n<li>Head appearing large compared with the body<\/li>\n<li>Arms not fully extending at the elbow<\/li>\n<li>Legs bowing or curving outward<\/li>\n<li>Spine curving or becoming narrow around the spinal cord<\/li>\n<\/ul>\n<p>The extent of these impacts will vary from person to person but can lead to delayed motor development, pain, or reduced mobility later in life.<\/p>\n                    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a292310866cf\" 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:\/\/hypochondroplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/other-potential-health-implications-Green-section-1-e1781530687185.png?v=1.26\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>Other potential health implications\n<\/h3>\n                            <p>When bone growth is inhibited, <strong>there\u2019s less space inside the body for organs and nerves<\/strong>. For some people with hypochondroplasia, this can affect physical development and lead to health issues that have a lasting impact, including:<\/p>\n<ul>\n<li>Frequent ear infections (can lead to hearing issues and speech delay)<\/li>\n<li>Trouble with breathing, such as sleep apnea<\/li>\n<\/ul>\n<p>Hypochondroplasia may also be associated with <strong>neurological impacts<\/strong>, such as seizures, neurocognitive delay, or challenges (occurs in a smaller number of people). Additionally, some individuals and families experience <strong>emotional and social challenges<\/strong>.<\/p>\n                    <\/div>\n<\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"FAQs\" class=\"block wrapped-content bg-band bg-band-primary 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-6a2979e3c1334\" class=\"heading-icon\">\n            <img decoding=\"async\" class=\"\" src=\"https:\/\/hypochondroplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/icon-faq.svg?v=1.26\" alt=\"\" \/>    <\/div>\n\n<div id=\"acf-block-6a281ac9af21d\" class=\"block-wysiwyg\">\n            <h2 style=\"text-align: center\">FAQs About Hypochondroplasia<\/h2>\n<p style=\"text-align: center\">Explore these FAQs for a deeper understanding of hypochondroplasia.<\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a281ac9af66a\" class=\"block accordion block-zero-top block-zero-bottom\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t                                                                                <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>What is hypochondroplasia?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>Hypochondroplasia is a type of skeletal dysplasia\u2014a rare genetic condition that affects bone and cartilage development. Hypochondroplasia inhibits bone growth in over 90% of the bones in the body and, in a smaller number of people, can also impact brain development.<\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>What causes hypochondroplasia?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>Hypochondroplasia is caused by a change in the <em>FGFR3<\/em> gene, which, among other functions, controls how cartilage develops into bone. The change in the <em>FGFR3<\/em> gene results in overactive <em>FGFR3<\/em> signaling in cartilage cells, which causes inhibited bone growth throughout the body.<\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>How many people are diagnosed with hypochondroplasia worldwide?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>Hypochondroplasia is rare. Because it is often underdiagnosed and misdiagnosed, the exact number is unknown but it is estimated to occur in 1 in 15,000-40,000 people. In the US, the average age of diagnosis is around 4.5 years old.<\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>Why is hypochondroplasia hard to diagnose?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>Hypochondroplasia is a rare condition and can look and affect each person differently. Because of this, some doctors may not be familiar with hypochondroplasia. They may think that a child is just small, choosing to wait for them to grow and catch up, or they can incorrectly diagnose with another condition or miss it completely. Because of its potential health impacts, it&#8217;s important to confirm a hypochondroplasia diagnosis through genetic testing to ensure your child is receiving proper care.<\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>How did my child get hypochondroplasia when no one in our family has it?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>Hypochondroplasia is caused by a change in the <em>FGFR3<\/em> gene that can be passed down by parents but mostly occurs spontaneously, which explains why the majority of children with hypochondroplasia are born to average-stature parents. If 1 or both parents have hypochondroplasia, their children have a 50% or 75% (respectively) likelihood of inheriting the condition.<\/p>\n                                                    <\/div>\n                    <\/div>\n                                                                            <div class=\"accordion-item\">\n                        <div class=\"accordion-title\">\n                            <div class=\"accordion-trigger\">\n                                <span><\/span>\n                                <span><\/span>\n                            <\/div>\n                            <h2>How does hypochondroplasia affect my child&#8217;s development?\n<\/h2>\n                        <\/div>\n                        <div class=\"accordion-content\">\n                                                            <p>Hypochondroplasia inhibits bone growth throughout the body, which can lead to reduced or disproportionate growth. When bone growth is inhibited, there\u2019s less room in the body for organs and nerves, which can impact different aspects of health and development. In addition, individuals with hypochondroplasia may experience neurological impacts or emotional and social challenges.<\/p>\n                                                    <\/div>\n                    <\/div>\n                            \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-67d29619837c8\" class=\"block call-to-action call-to-action-no-overlay 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                            <div class=\"cta-image\">\n                            <img decoding=\"async\" class=\"\" src=\"https:\/\/hypochondroplasia.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/paper-airplane-CTA-block.png?v=1.26\" alt=\"\" \/>                        <\/div>\n                    \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\">Join the Inside Story\n<\/h2>\n\t\t\t\t\t\t    \t\t\t\t\t\t    \t\t\t\t\t\t        <p>Be the first to access information about hypochondroplasia, including updates on the latest research, educational resources, and future events in your area. All sent directly to your inbox.<\/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:\/\/hypochondroplasia.biomarin.com\/en-us\/stay-connected\/\" target=\"_self\">Sign up now<\/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-67d408d2d96bb\" 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-67d408d2d98c2\" class=\"block-wysiwyg\">\n            <p><strong>References<\/strong><\/p>\n<ul>\n<li>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\/<\/li>\n<li>Berendsen AD, Olsen BR. Bone development. <em>Bone<\/em>. 2015;80:14-18.<\/li>\n<li>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\/<\/li>\n<li>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\/<\/li>\n<li>Clarke B. Normal bone anatomy and physiology. <em>Clin J Am Soc Nephrol<\/em>. 2008;3 Suppl 3(Suppl 3):S131-S139.<\/li>\n<li>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\/<\/li>\n<li>Data on file [1]. BioMarin Pharmaceutical Inc; 2025.<\/li>\n<li>Doherty M, Hertel NT, Hove HB, et al. Neurological symptoms, evaluation and treatment in Danish patients with achondroplasia and hypochondroplasia. J Rare Dis Res Treat. 2017;2:25-32.<\/li>\n<li>Encyclopaedia Britannica. Science &amp; Tech. Clavicle. Accessed May 14, 2026. https:\/\/www.britannica.com\/science\/clavicle<\/li>\n<li>Encyclopaedia Britannica. Science &amp; Tech. Skull. Accessed May 14, 2026. https:\/\/www.britannica.com\/science\/skull<\/li>\n<li>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.<\/li>\n<li>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.<\/li>\n<li>Hall R, Beals K, Neumann H, et al. <em>Introduction to Human Osteology<\/em>. Grand Valley State University; 2008.<\/li>\n<li>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.<\/li>\n<li>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.<\/li>\n<li>Johns Hopkins Medicine. Anatomy of the bone. Accessed May 14, 2026. https:\/\/www.hopkinsmedicine.org\/health\/wellness-and-prevention\/anatomy-of-the-bone<\/li>\n<li>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.<\/li>\n<li>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.<\/li>\n<li>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.<\/li>\n<li>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.<\/li>\n<li>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.<\/li>\n<li>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.<\/li>\n<\/ul>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-67c04b85e80b1\" class=\"block next-previous block-zero-top block-zero-bottom\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n            <div class=\"link link-prev\">\n                                    <p><a class=\"button button-text button-arrow button-arrow-left\" href=\"https:\/\/hypochondroplasia.biomarin.com\/en-us\/\" target=\"_self\">Home<\/a><\/p>\n                            <\/div>\n            <div class=\"link link-next\">\n                                    <p><a class=\"button button-text button-arrow\" href=\"https:\/\/hypochondroplasia.biomarin.com\/en-us\/care-and-management\/\" target=\"_self\">Care and\u2028Management<\/a><\/p>\n                            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