Rhizomelic chondrodysplasia punctata, type 1 (RCDP1; OMIM 215100), resulting from mutations in peroxisome biogenesis factor 7 (PEX7; OMIM 601757) is typically characterised by severe, prenatal defects in bone growth resulting in short stature, neurological impairment, and cataracts. The gene discussed is PEX7; the disease is chondrodysplasia punctata.