Deafness, ichthyosiform erythroderma, corneal involvement, photophobia and dental dysplasia.
Early childhood deafness, congenital non-bullous ichthyosiform erythroderma, corneal involvement, photophobia, chronic blepharoconjunctivitis, hypotrichosis, anhidrosis, hyperkeratosis of the nails and dental dysplasia were the symptoms observed in the 19-year-old girl described in this paper. The literature comprises reports on 8 patients with this syndrome, which McKusick (1975) listed as no. 24215.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D003638:Deafness / Q000150:complications*; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000150:complications*; D007223:Infant; D007231:Infant, Newborn; D010787:Photosensitivity Disorders / Q000150:complications*; D014071:Tooth Abnormalities / Q000150:complications*