Stickler initially described a family with a dom-inantly inherited pattern of high myopia, a high incidence of retinal detachment and abnormal epiphyseal development with premature degenerative changes in various joints. Subsequent analysis of this and other families linked the disorder to COL2A1, the gene for type II col
lagen on chromosome 12. Stickler syndrome is therefore on the mild end of a spectrum of chondrodysplasias, which include spondyloepiphyseal dysplasia congenita, spondyloepimeta-physeal dysplasia and Kniest dysplasia.
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