Tags: Disease.
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.Types include: Rhizomelic chondrodysplasia punctata 215100 222765 600121 X-linked recessive chondrodysplasia punctata 302950 Conradi-Hünermann syndrome 302960 Autosomal dominant chondrodysplasia punctata 118650↑ ↑