How do we diagnose achondroplasia?

Your doctor might diagnose achondroplasia before birth using a fetal ultrasound or after birth through a physical examination and complete review of family medical history. Parents who are at increased risk for having a child with achondroplasia might consider DNA testing before birth to confirm fetal ultrasound findings.

How do we treat achondroplasia?

Because of the wide range of symptoms, there is no one specific achondroplasia treatment. However, children diagnosed with achondroplasia need to have their height, weight, and head circumference monitored. Measures to avoid obesity at an early age are typically recommended. Otherwise, your child’s doctor will address achondroplasia-related medical complications, such as ear infections, as they arise.

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