{"id":11004,"date":"2026-01-12T01:00:12","date_gmt":"2026-01-12T01:00:12","guid":{"rendered":"https:\/\/www.biomarin.com\/en-au\/?page_id=11004"},"modified":"2026-05-13T08:04:26","modified_gmt":"2026-05-13T08:04:26","slug":"patient-carer-landing","status":"publish","type":"page","link":"https:\/\/www.biomarin.com\/en-au\/patient-carer-landing\/","title":{"rendered":"Patient-Carer Landing"},"content":{"rendered":"
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Understanding achondroplasia\u2028and care options for your child\n \n \n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t

Learn about achondroplasia so you can be better prepared to navigate challenges and make informed decisions about your management options with your doctor.<\/p>\n

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What is achondroplasia?<\/h2>\n

Achondroplasia facts<\/p>\n <\/div>\n\n

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Achondroplasia is a rare genetic disorder and\u2028most common form of disproportionate short stature that affects around 1 in 20,000 individuals in Australia<\/p>\n <\/div>\n<\/div>\n\n

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Achondroplasia disrupts bone growth, most notably in the arms, legs and head<\/p>\n <\/div>\n<\/div>\n\n

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Achondroplasia is caused by a random natural change in the fibroblast growth factor receptor 3 (FGFR3) gene, which sends more signals to slow bone growth than it should<\/p>\n <\/div>\n<\/div>\n\n

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~80% of children with achondroplasia are born\u2028to parents of average stature<\/p>\n <\/div>\n<\/div>\n\n

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Diagnosis occurs most commonly during pregnancy based on ultrasound and imaging but may occur after birth<\/p>\n <\/div>\n<\/div>\n\n

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The support of a healthcare team can help children live healthy and fulfilling lives<\/p>\n <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n

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What can you expect?\n<\/h2>\n <\/div>\n
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Achondroplasia can cause serious, progressive, and lifelong complications, but does not have to hold children back from living happy and active lives.<\/p>\n

In the first few years, delays in achieving physical milestones such as rolling over and walking are common. Over time, health challenges may need to be managed or monitored closely, including hearing impair ment, difficulty breathing (especially during sleep), difficulty walking, bone stiffness and pain, obesity and mental health. Sometimes medical inter ventions may be needed.<\/p>\n <\/div>\n \n <\/div>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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Every child is different, and their needs will vary over time, so it\u2019s important to maintain regular contact with your healthcare team and address any concerns you have promptly.\n<\/h2>\n\t\t\t\t\t\t \t\t\t\t\t\t \t\t\t\t\t <\/div>\n\t\t\t\t\t <\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n
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How is achondroplasia managed?\n<\/h2>\n <\/div>\n
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Many different healthcare professionals share the care of children with achondroplasia, including genetic specialists, paediatricians, general practitioners and allied healthcare professionals, such as physiotherapists, occupational therapists and speech therapists.<\/p>\n

Depending on the state or territory you live in, health services can vary, but most have a dedicated achondroplasia service that provides access to the specialist care your child needs.<\/p>\n <\/div>\n \n <\/div>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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Once a diagnosis is confirmed, your healthcare team will be able to help you manage your child\u2019s care and discuss the latest care options.\n<\/h2>\n\t\t\t\t\t\t \t\t\t\t\t\t \t\t\t\t\t <\/div>\n\t\t\t\t\t <\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n
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How is achondroplasia treated?\n<\/h2>\n\t\t\t\t\t\t\t\t\t\t\t\t

Treatment for achondroplasia generally focuses on managing complications and improving growth. Recently, a medicine that can help promote bone growth became available in Australia and may be an option to discuss with your healthcare team.<\/p>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t

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Things you can ask your healthcare team\n<\/h4>\n \n