Overview

Achondroplasia

Achondroplasia

What is Achondroplasia?

Achondroplasia is a condition where the bones do not grow as much as usual.  The condition affects how some of the bones develop, particularly the limb bones and specifically the upper arm and thighs.  About 1 in 25,000 babies born in the UK have Achondroplasia.

Why does Achondroplasia Happen?

Achondroplasia is a genetic condition.  You may have heard about genes which are the instructions for how our body develops and works.  We have many thousands of genes which have different jobs to do within the body.  Our genes come in pairs because we get one from each of our parents.  Achondroplasia happens when one copy of a particular gene (called FGFR3) does not work normally.  This gene is important in how our bones grow.  Achondroplasia most often happens 'out of the blue' in a baby whose parents are of normal height.  It is not related to anything you did or didn't do in pregnancy.  If you want more information about this you can talk to a Genetics Doctor.

Useful Sources of Information and Support Groups

Some families find it helpful to link in with support groups in order to meet and share experiences with other parents, carers and children with Achondroplasia and Short Stature.  Supporting organisations that we frequently signpost families to include

Click here for NHS GG&C information leaflet by the Royal Hosptial for Children.