Skip to Content
Medical Term:

rhizomelic dwarfism


Definition: 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.

© Copyright 2016 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.