achondroplasia
Last edited 11/2020 and last reviewed 11/2020
Achondroplasia is inherited as an autosomal dominant disorder. It is diagnosed in the first years of life and affects 1 in 26,000 births; the majority of cases are sporadic.
Characteristics include disproportionate shortness of the limbs and large head, but apparently normal trunk.
Surgical manipulation of leg length may improve stature.