It is characterized by recurrent venous or arterial thrombosis, fetal death through miscarriage, and thrombocytopenia associated with the presence of circulating antiphospholipid antibodies (AFA) represented by the anticardiolipin (ACL) and/or lupus anticoagulant (LA).1,11 In just 50% of AFAS cases are both the tests positive, which makes it necessary to perform the two tests in clinically suspicious cases. The gene discussed is ACLY; the disease is ankyloblepharon filiforme adnatum-cleft palate syndrome.