Chondrodysplasia punctata

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

 * Rhizomelic chondrodysplasia punctata, ,
 * X-linked recessive chondrodysplasia punctata
 * Conradi–Hünermann syndrome (chondrodysplasia punctata 2, x-linked dominant)
 * Autosomal dominant chondrodysplasia punctata