Rhizomelic chondrodysplasia punctata
Definition
Rhizomelic chondrodysplasia punctata is a rare, severe, inherited disease. The main features are limb shortening, bone and cartilage abnormalities visible on x ray, abnormal facial appearance, severe mental retardation, profound psychomotor retardation, and cataracts. Skeletal abnormalities can be seen prenatally. Most affected persons die in infancy. No treatments are available.
Description
Rhizomelic chondrodysplasia punctata (RCDP) is caused by an abnormal protein in a part of the cell called the peroxisome. The inside of the cell contains compartments (called "organelles") that perform specific functions. The peroxisome functions in many metabolic processes, especially those involving lipids (fats) and hydrogen peroxide. Multiple peroxisomes are in almost every human cell. RCDP...
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