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Achondroplasias

An autosomal dominant disorder that is the most frequent form of short-limb Dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic Facies with frontal bossing and mid-Face hypoplasia, exaggerated lumbar Lordosis, limitation of elbow extension, Genu Varum, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)