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achondroplasia
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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.
Last edited 11/2020 and last reviewed 11/2020
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