Some of the most characteristic facial features resembling Noonan Syndrome (ptosis, broad nasal bridge, hypertelorism) have also previously described as common dysmorphisms in SETBP1-HD [10, 13] and, together with other signs (i.e.: pectus excavatum with wide-spaced nipples) may evoke this clinical suspicion. Here, SETBP1 is linked to ptosis.