Fig. 1

Characteristic features of the face and body in individuals with short stature. a Hypertelorism, small mouth, and low-set ears, in patient K2 with Hajdu–Cheney syndrome; b subtle dysmorphic facial features, such as long face, in patient K3 with cerebral creatinine deficiency; c hypertelorism, epicanthal fold, broad nose, anteverted nares, short philtrum, large mouth, thick/everted lips, and large ears, in patient K4 with Coffin–Lowry syndrome; d triangular face, upward slanting palpebral fissures, right cryptotia, nasolabial folds, small mouth with a high, arched roof of the mouth, and webbed neck in patient K6 with Sheldon–Hall syndrome; e microcephaly, prominent and narrow nose, short philtrum, and micrognathia in patient K7 with Meckel syndrome (Type 7); f relative macrocephaly with frontal bossing, short arms and legs, and brachydactyly in patient K9 with acromesomelic dysplasia Maroteaux-type; g small chin, upward nostril, and low nasal bridge, rhizomelia, and genu varum in patient K14 with microcephalic osteodysplastic primordial dwarfism type II; h, i coarse face, long philtrum, and hand deformity in patient K15 with Hajdu–Cheney syndrome; j hypotonic fish-mouth appearance, hypertelorism, and flat nasal bridge with bulbous nasal tip in patient K16 with MED13L syndrome; k, l her (patient K16) siblings with the same mutation in MED13L