Rhizomelic chondrodysplasia punctata 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. 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 is one of many peroxisomal disorders, as well
as a metabolic disorder. Three other conditions are also called
"chondrodysplasia punctata." These conditions are different from
RCDP. They have almost the same