Catalog

Lethal neonatal chondrodysplasia punctata

No MMS code

Link to WHO Definition

Lethal neonatal chondrodysplasia punctata – http://id.who.int/icd/entity/1007347782

This is a lethal neonatal clinically and genetically diverse group of rare diseases, first described by Conradi, that share the features of stippled epiphyses and skeletal changes.