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What causes achondroplasia?

Most people with achondroplasia are born to parents of average height, following a genetic change - usually in the sperm. This particular change - or mutation - occurs occasionally when the DNA is copied in cells that multiply to make the sperm. The mutation that causes achondroplasia is a single change in the letters of the DNA code of the FGFR-3 gene.

A family where the 12-year-old son has achondroplasia. The rest of the family are of average height.
A family where the 12-year-old son has achondroplasia. The rest of the family are of average height.
Wellcome Photo Library

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