According to the literature, CER1 and FREM1 have been suggested as responsible for trigonocephaly, DOCK8 has been proposed as a candidate gene for mental retardation and seizures, FOXD4 has been related to speech and language delay, and DMRT1 may play a role in sex reversal [8,10,24,25,26]. The gene discussed is DMRT1; the disease is trigonocephaly.