How to detect achondroplasia? – Health advice

Published on : 16/09/2020 – 10:17

Dwarfism can result from a hundred different causes. The most common cause of this disruption in growth is achondroplasia, a genetic mutation that can have a significant impact on the state of health, and require appropriate management, to limit complications.

Beyond the question of health, there is that of social integration, the regard of others and stigma.

How to define achondroplasia? At what stage of pregnancy is this disease detectable? What health problems does this growth failure cause?

  • Prof. Valérie Cormier-Daire, Professor of Genetics, Head of the Clinical Genetics Department at the Necker Hospital for Sick Children, Coordinator of the Reference Center for Constitutional Bone Diseases and head of a research team at the IMAGINE institute

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