chondrodysplasia punctata chondrodysplasia punctata chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by erich conradi (1882–1968), that share the features of stippled epiphyses and skeletal changes.: 500 : 549 chondrodysplasia punctataspecialtymedical genetics types rhizomelic chondrodysplasia punctata 215100, 222765, 600121 x-linked recessive chondrodysplasia punctata 302950 conradi–hünermann syndrome (chondrodysplasia punctata 2, x-linked dominant) 302960 autosomal dominant chondrodysplasia punctata 118650