Osteolytic and metabolic changes linked to MMP-2 deficiency affect tarsal, carpal, and phalangeal bones, cause severe arthropathy, osteoporosis, fibrous nodules, distinctive craniofacial defects such as exophthalmos, brachycephaly, and flattened nasal bridges and dwarfism (Al-Aqeel et al., 2000; Al-Mayouf et al., 2000; Al-Aqeel, 2005; Mosig et al., 2007; Page-McCaw et al., 2007; Castberg et al., 2013). The gene discussed is MMP2; the disease is osteoporosis.