{"id":22,"date":"2023-07-07T09:05:20","date_gmt":"2023-07-07T09:05:20","guid":{"rendered":"https:\/\/achdsepatient-dev-001.azurewebsites.net\/en-us\/?page_id=22"},"modified":"2025-01-28T20:15:14","modified_gmt":"2025-01-28T20:15:14","slug":"what-is-achondroplasia","status":"publish","type":"page","link":"https:\/\/achondroplasia.biomarin.com\/en-gb\/what-is-achondroplasia\/","title":{"rendered":"What is achondroplasia?"},"content":{"rendered":"
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What is achondroplasia?\n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t

Achondroplasia is the most common cause of short stature, or dwarfism. One of the most important things to know is this: it\u2019s about more than just height.<\/strong><\/em><\/p>\n\t\t\t\t\t\t\t\t\n

\n \t\t\t\t Download the Facts<\/a>\t\t\t\t <\/p>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n

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Achondroplasia Is<\/h2>\n

a type of skeletal dysplasia (a condition that affects the bones and cartilage). While the most visible effects are in the arms, legs, and face, nearly all<\/em> of the bones in the body are affected. The widespread impact of this condition can cause serious, progressive, and lifelong complications. But despite these complications, achondroplasia does not have to hold people back from living happy and fulfilling lives.<\/p>\n

The more you know, the more prepared you can be for the future.<\/strong><\/p>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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RARE\n<\/h3>\n

1 in 25,000 children are born with achondroplasia, and there are about 250,000 people in the world with this condition.1,2<\/sup><\/p>\n <\/div>\n<\/div>\n\n

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GENETIC\n<\/h3>\n

Most children with achondroplasia (80%) are born to parents of average stature as the result of a change in the gene (a variant) that causes it to not function properly.3<\/sup><\/p>\n

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References:<\/strong>\u00a01.<\/strong>\u00a0Ireland PJ\u00a0et al. Appl Clin Genet<\/em>\u00a02014;7:117\u2013125.\u00a02.<\/strong>\u00a0Wynn J\u00a0et al. Am J Med Genet<\/em>\u00a0A 2007;143A(21):2502\u201311.\u00a03.<\/strong>\u00a0Hecht JT, Bodensteiner JB, Butler IJ.\u00a0Handb Clin Neurol<\/em>\u00a02014;119:551\u201363.<\/small><\/p>\n <\/div>\n<\/div>\n\n

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DIAGNOSED IN DIFFERENT WAYS \n<\/h3>\n

Sometimes achondroplasia is detected or found before birth based on physical features during an ultrasound. Radiology (medical imaging) or genetic testing may be required to confirm the diagnosis. In other cases, it isn’t diagnosed until after birth.<\/p>\n <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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Achondroplasia Begins With the Bones<\/h2>\n

Bones begin growing before birth (in utero) and keep growing until adulthood. The process happens in the bones\u2019 growth plates, where the body makes cartilage that is then replaced by bone.<\/p>\n

Chondrocytes (cells in the cartilage) line up to form new bone. This process is called endochondral ossification and happens in almost all the bones of the body. Receptors in chondrocytes control the process by sending out and receiving signals.<\/p>\n <\/div>\n\n

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Some signals, like the signals from NPRB receptors (natriuretic peptide receptor B), tell the bones to grow. Others, like the signals from FGFR3 receptors (fibroblast growth factor receptor 3), tell the bones to slow down growth.<\/p>\n

FGFR3 receptors are usually only \u201cturned on\u201d when the body needs to stop changing cartilage into bone.<\/p>\n <\/div>\n\n

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In achondroplasia, a change in the structure of the FGFF3<\/em> gene causes the body to continuously send out signals to slow bone growth. Because FGFR3<\/em> receptors are always \u201cturned on,\u201d the signals to slow bone growth are stronger than the signals that tell bones to grow (which come from the NPRB receptors).<\/p>\n

As a result, the chondrocytes have trouble lining up to form new bone, impairing bone growth.<\/strong><\/p>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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Learn about the lifelong impacts of achondroplasia\n<\/h2>\n\t\t\t\t\t\t \t\t\t\t\t\t \t\t\t\t\t <\/div>\n\t\t\t\t\t
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KNOW WHAT TO EXPECT<\/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>","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-22","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"\nAchondroplasia, a Type Of Dwarfism | Causes & Facts<\/title>\n<meta name=\"description\" content=\"Find out about the genetic cause of this inherited condition and the impact of Achondroplasia, a type of short limbed dwarfism, on bone growth.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/achondroplasia.biomarin.com\/en-gb\/what-is-achondroplasia\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" 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