Deletions on chromosome 22q11.2 coding for UFD1L are associated with cardiac and craniofacial developmental defects that are characteristic of the DiGeorge syndrome (DGS), the velo-cardio-facial syndrome (VCFS) (Yamagishi et al. 1999; Driscoll et al. 1992) and the Opitz G/BBB syndrome (McDonald-McGinn et al. 1995) all known under the term of CATCH22 syndrome. The gene discussed is UFD1; the disease is Opitz G/BBB syndrome.