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

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