chondrodysplasia punctata

chondrodysplasia punctata, an inherited form of dwarfism characterized by skin lesions, radiographic evidence of epiphyseal stippling, and a pug nose. There are two types of the anomaly: a benign Conradi-Hünermann form marked by mild asymmetric limb shortening and a lethal rhizomelic form with marked proximal limb shortening. The Conradi-Hunermann form of the disorder is transmitted by an autosomal-dominant gene and the rhizomelic form by an autosomal-recessive gene.