ACHONDROPLASIAS
\ɐt͡ʃˌɒndɹəplˈe͡ɪzi͡əz], \ɐtʃˌɒndɹəplˈeɪziəz], \ɐ_tʃ_ˌɒ_n_d_ɹ_ə_p_l_ˈeɪ_z_iə_z]\
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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)
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