In conclusion, if facial abnormalities are observed in a neonate, DGS, ICF syndrome, 3MC syndrome type 2 (COLEC11 deficiency), Cohen syndrome (COH1 deficiency), ITCH deficiency, STAT5B deficiency, FILS (facial dysmorphism, immunodeficiency, livedo, and short stature) syndrome, RNF168 deficiency, Kabuki Syndrome, Cernunnos (XLF), and Bloom syndrome are among the first in the differential diagnosis list.1, 10, 95. This evidence concerns the gene ITCH and hyperinsulinemic hypoglycemia, familial, 4.