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Achondroplasia

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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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.


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