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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)

[Greek] Absent or defective formation of cartilage.

Condition in rickets marked by defective development of cartilage at the epiphyses of the long bones.

A congenital anomaly of deficient cartilaginous growth, causing dwarfism, primarily occasioned through disorder of the endacrinous glands. [Gr.]