In accordance with the importance of CXXC5 in cellular events, de-regulated expressions of CXXC5 appear to correlate with the development, and resistance to therapies, of various pathologies including cardiovascular disease, diminished ovarian reserve (DOR), Blepharophimosis Ptosis Epicantus Inversus Syndrome (BPES), Acute Myeloid Leukemia (AML), prostate and breast cancer8,25–30. This evidence concerns the gene CXXC5 and blepharophimosis, ptosis, and epicanthus inversus syndrome.