spondyloepiphyseal dysplasia

a hereditary dysplasia of the vertebrae and extremities resulting in dwarfism of the short-trunk type, often with shortened limbs due to epiphyseal abnormalities. In the delayed onset form, the principal feature is precocious osteoarthritis. There are several forms, including autosomal dominant, autosomal recessive, and X-linked forms, the dominant form often being associated with such ocular anomalies as myopia and detached retina.