Dictionary of Human Evolution and Biology

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Achondroplasia

A congenital, autosomal dominant form of dwarfism that results from a failure of cartilage to be converted into bone in the epiphyseal disks. ACH affects mainly the long bones by causing rhizomelic shortening, but may also cause trident hand, frontal bossing and mid-face hypoplasia; the cranial base may distend, causing the cranium to become enlarged. The defective gene is a fibroblast growth factor receptor.

Cf. hGH-resistant dwarfism and pituitary dwarfism.

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