Chondrodysplasia punctata

Chondrodysplasia punctata

Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich 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 ... more on Wikipedia

Chondrodysplasia punctata is also found on...

List of Rare and Orphan Diseases