{"id":3427,"date":"2026-04-08T10:18:40","date_gmt":"2026-04-08T10:18:40","guid":{"rendered":"https:\/\/achondroplasia.biomarin.com\/en-us\/?page_id=3427"},"modified":"2026-04-30T08:29:10","modified_gmt":"2026-04-30T08:29:10","slug":"diagnosis","status":"publish","type":"page","link":"https:\/\/achondroplasia.biomarin.com\/en-us\/diagnosis\/","title":{"rendered":"Diagnosis"},"content":{"rendered":"
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Navigating a diagnosis\n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t

A deeper understanding of what comes after an achondroplasia diagnosis can help you move forward with confidence during this important time in your child’s development. Start by exploring local specialists.<\/p>\n\t\t\t\t\t\t\t\t\t\t\t\t

FIND CARE NEAR YOU<\/a><\/p>\n\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n

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Thinking about Raegan’s future in the beginning was scary, but now that I see her, I have no concerns.<\/p>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t Raechel, Mother of Raegan, 5 years old <\/cite>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/blockquote>\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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EACH DIAGNOSIS STORY IS UNIQUE<\/h2>\n

Whether you’re learning about achondroplasia for the first time, know someone with the condition, or have it yourself, receiving your child’s diagnosis can initially feel overwhelming. However, confirming an achondroplasia diagnosis can allow you to start taking steps toward providing proactive and ongoing care for your child<\/p>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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PRENATAL<\/h5>\n

For some parents, an achondroplasia diagnosis could be suspected prenatally from unexpected skeletal findings during routine pregnancy ultrasounds, typically around 26 weeks (end of the 2nd trimester), or if one or both parents have achondroplasia.<\/p>\n

AFTER BIRTH<\/h5>\n

For other parents, an achondroplasia diagnosis may not be suspected for their child until after birth, when doctors may notice delayed growth, certain physical features, or smaller bones on X-rays.<\/p>\n

CONFIRMATION<\/h5>\n

To distinguish from other types of skeletal conditions, the genetic testing for achondroplasia will look specifically at the FGFR3 (fibroblast growth factor receptor 3)<\/em> gene. FGFR3<\/em> is responsible for sending cell signals that slow bone growth\u2014in achondroplasia, it slows bone growth<\/strong> more than it should.<\/p>\n <\/div>\n \n

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The importance of early development ON HEALTH<\/h3>\n

For all children, bones only grow for a limited time\u2014starting from before birth until late adolescence or early adulthood. In achondroplasia, the growth of bones that develop from cartilage (known as endochondral bones<\/strong>) is inhibited throughout the body.<\/p>\n <\/div>\n\n

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When bone growth is inhibited, parts of the skeleton becomes smaller, leaving less room in the body for some organs and nerves.<\/strong> This can impact your child’s health in different ways, such as difficulty breathing while asleep, having a smaller opening at the base of the skull, or repeat ear infections that can cause delays in motor or language development. All of which are more common in your child’s first 2 years of life and may benefit from early care.<\/p>\n

See the health impacts<\/a><\/p>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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FIND SPECIALIZED CARE NEAR YOU<\/span><\/h3>\n\t\t\t\t\t\t\t\t

Because achondroplasia is rare, it may be difficult to find doctors with the experience you need.\u00a0Feel confident you’re finding specialized care for your child.<\/p>\n\t\t\t\t\t\t\t<\/div>\n\n\t\t\t

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Locate healthcare providers in your area who have chosen to be part of the Achondroplasia Doctor Finder.<\/p>\n\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t

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\n <\/br>Search results are not comprehensive and do not reflect any endorsement or certifications from BioMarin. <\/br><\/br>This directory is available for any healthcare provider who chooses to be listed and may not reflect all healthcare professionals in your area.<\/em> <\/div>\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\t\t<\/div>\n\n\t\t\t\t\t\t\t
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There are no clinics available within the distance you specified. You can expand your search area, or search for a different location instead.<\/p>\n\t\t\t\t\t\t\t \t\t\t\t\t\t\t<\/div>\n\n\t\t\t\t\t\t\t

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