Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a distinct peroxisome biogenesis disorder caused by defects in PEX7 that impair the peroxisomal pathways of plasmalogen (Pls) synthesis and phytanic acid (PA) oxidation. This evidence concerns the gene PEX7 and rhizomelic chondrodysplasia punctata.