Emberger syndrome (OMIM #614038) is characterized by the association of primary lymphedema (a common feature found in 11–20% of GATA2 carriers, typically affecting one or both lower limbs, frequently involving the genitals in the form of a hydrocele), with AML (often preceded by pancytopenia or MDS), with or without congenital sensorineural hearing loss [38,40,41,68,71,76,94,95,96,97]. This evidence concerns the gene GATA2 and acute myeloid leukemia.