Mental deficiency is usually associated.
Ocular abnormalities are present in about one-third of all cases.
They include strabismus, cataracts, optic atrophy, retrolental fibroplasia, pseudoglioma, retinal detachment, myopia, blue sclerae, nystagmus, microphthalmos, retinal telangiectasia, ophthalmia, and pigmentation disorders of the conjunctiva, iris, retina, and oculomotor paralysis. Supernumerary ribs, unilateral breast aplasia, and supernumerary nipples. The principal cutaneous features include verrucous, pigmented macular lesions. Patches of vesicles may be present at birth, but they are replaced by crops of violaceous papules and inflammatory lesions. The inflammatory stage may pass directly to the pigmented stage, or it may blend into a warty or papillomatous phase with subsequent development of pigmented macules.