Catalog

Rhizomelic chondrodysplasia punctata

No MMS code

Link to WHO Definition

Rhizomelic chondrodysplasia punctata – http://id.who.int/icd/entity/260357080

Rhizomelic chondrodysplasia is a peroxisomal disease that belongs to the group of chondrodysplasia punctata, in which the common characteristic is calcifications near joints at birth. Rhizomelic chondrodysplasia is associated with shortness of the femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe intellectual deficit.