What causes achondroplasia?

Bone is made from cartilage, which is produced at the ends of limb bones as they grow. People with achondroplasia produce less cartilage, so their limbs are shorter. They have an altered version of a gene, called FGFR-3 which is the instruction for a protein that becomes overactive as a result of the change, slowing down cartilage growth.

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X-ray of a child with achondroplasia.

How is achondroplasia inherited?

People with achondroplasia may pass on the condition to their children. If one parent is affected, each child has a one-in-two chance of having achondroplasia, and a one-in-two chance of being average height. Those born with achondroplasia may pass the condition on to their own children, while those of average height will not.

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Inheritance of achondroplasia.

 

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