ASXL1 and trigonocephaly: In contrast, patients with dominant mutations of ASXL1 are diagnosed with Bohring-Opitz syndrome, a malformation syndrome characterized by severe intrauterine growth retardation, intellectual disability, trigonocephaly, hirsutism, and flexion of the elbows and wrists with a deviation of the wrists and metacarpophalangeal joints (Hoischen et al. 2011).