What is achondroplasia?Achondroplasia is one of the most common causes of short stature. People with this condition have an average body size, but shorter limbs. This is because the bones in their arms and legs grow more slowly, both in the womb and throughout childhood. Most people with achondroplasia do not consider themselves disabled, just different. Young children with achondroplasia may have hearing, speech or breathing problems but all of these can be treated.
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.
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.