Fig. 1

Facial, limb, and full body pictures of patients with PHF21A mutations. a Facial picture of patient 1 showing a broad nasal bridge, broad nasal tip, and significant bilateral epicanthal folds. b Profile view showing a café-au-lait spot on the right cheek, and her columella was wide, short, and hypoplastic. c Profile showing a Darwinian tubercle on the low-set left ear. d Fleshy and posteriorly rotated ears. e Full body image showing truncal obesity. f Hands showing mild tapering fingers and clinodactyly. g Feet were completely flat and showed brachydactyly of the toes. h Inverted nipple on the left and left-sided polythelia. I–L Patient 2 with a round face, a high forehead, a broad nasal bridge, mild bitemporal narrowing, synophrys, and macrostomia with conical teeth. m, n Tapering fingers and clinodactyly in patient 2. O, P Face showing a thinner upper lip and a prominent chin in patient 3. q Patient 3 showing tapering fingers and clinodactyly. r, s Patient 4 with mild plagiocephaly and hypertelorism. t normal fingers of patient 4. u Minor syndactyly of toes two and three in Patient 4. v–aa Patient 6 showing midface hypoplasia, a thin upper lip, and a prominent chin in v and z, aa