Rhizomelic chondrodysplasia punctata is a disorder caused by abnormal peroxisomal function which can be mediated both through disorders of biosynthesis, for example, peroxisomal assembly (RDCP1), and by single enzyme defects, affecting plasmalogen synthesis (RCDP2, RCDP3). The gene discussed is AGPS; the disease is rhizomelic chondrodysplasia punctata.