Abstract
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 , ,
- X-linked recessive chondrodysplasia punctata
- Conradi-Hünermann syndrome
- Autosomal dominant chondrodysplasia punctata