Catalog

Chondrodysplasia punctata, X-linked dominant

No MMS code

Link to WHO Definition

Chondrodysplasia punctata, X-linked dominant – http://id.who.int/icd/entity/1162313566

X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-Hünermann-Happle syndrome, is a rare form of skeletal dysplasia that affects the skeleton producing short stature, asymmetric shortening of the limbs and scoliosis, as well as affecting the skin, hair and eyes.