Skeletal dysplasia, rhizomelic, with retinitis pigmentosa is a very rare genetic disorder of the bones and retina described only in a Lebanese girl. The abnormalities associated with this disorder include pre- and post- natal short stature with rhizomelic limb shortening, retinitis pigmentosa, photophobia, short neck, broad thorax, platyspondyly, bilateral subluxation of the hips, and advanced maturation of the epiphyses. Intellectual development appears to be normal.