diagnosis

Achondroplasia can appear before symptoms do, by looking at how long their legs and arms are. The disorder can also be detected prenatally (before birth) by an ultrasound. Thirdly there are no ways to detect if there is a carrier of this disorder, because it is an autosomal dominant disorder. DNA testing is now available before birth to confirm fetal ultrasound findings for parents who are at increased risk for having a child with Achondroplasia. Before birth Achondroplasia can be confused for many other diseases, this is why DNA testing is so important. There is no possibility for there to be a carrier of the gene so either you have the gene or you do not have it.

Here are the legs of  Gwendolyn, in X-ray form.