one of the syndromes of chondrodysplasia punctata (q.v.), autosomal recessive, with variable skin keratinization disorders and variable facial, cardiac, optic, and central nervous system abnormalities; epiphysial stippling is also present. There are multiple enzymatic defects, including peroxisomal types, and affected infants fail to thrive and usually die in infancy.
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Examples: glitazone, GI cocktail, etc.