The diagnosis of MDS may be the first presentation of the underlying germline predisposition or may be the hematologic presentation of a syndrome unrecognized with subtle or non-hematologic manifestations, like short-stature in Shwachman–Diamond syndrome (SDS) (2) or lymphedema in GATA2 deficiency (9). This evidence concerns the gene GATA2 and myelodysplastic syndrome.