Canadian Medical Guide > Diseases > Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Dwarfism > Achondroplasia Terms and Definitions




Achondroplasia

Medical Definition: 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, https://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)

Achondroplasia Medical Definitions and Terms

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