Definition: a chondrodysplasia characterized by round flat facies, enlargement and stiffness of joints, joint contractures, scoliosis, myopia with retinal detachment, cleft palate, deafness, and characteristic radiographic findings of metaphysial flaring of long bones, flattening, and coronal clefting of vertebrae; autosomal dominant inheritance, caused by mutation in the type II collagen gene (COL2A1) on chromosome 12q.
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