Photographs showing the facial features of probands with variants in HECW2. (A) Photograph showing patient 1 with midface retrusion and thin vermillion upper lip. (B) Photograph showing patient 2 with features including flat nasal bridge, mild epicanthal folds, telecanthus, thick eyebrows, synophrys, short, upturned nose with bulbous nasal tip, widely spaced teeth and deep set eyes. (C and D) Photographs showing patients 3 and 4, respectively, with deep set eyes, ptosis and a prominent forehead. (E and F) Photographs showing patient 5 with slightly large ears and an upturned nose with bulbous nasal tip. (G and H) Photographs showing patient 6 with sparse eyebrows, slightly depressed nasal bridge and upturned nasal tip.