PEX7 and rhizomelic chondrodysplasia punctata: The human peroxisomal disorder Rhizomelic Chondrodysplasia Punctata (RCDP) type 1 [15], [16], caused by mutations in the PEX7 gene is characterized by a clinical presentation that includes congenital cataracts, proximal shortening of long bones, contractures and hypotonia [17]–[19].