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1. (n.) achondroplasia
a defect of fetal bone development, resulting in a type of dwarfism characterized by a large head and short limbs.
Etymology: (1890–95; a -6+ Gk
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| Definition of 'achondroplasia' |
Princeton's WordNet |
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1. (noun) achondroplasia, achondroplasty, osteosclerosis congenita, chondrodystrophy
an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
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| Definition of 'achondroplasia' |
U.S. National Library of Medicine |
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1. achondroplasia
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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