Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Conradi, 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