Abstract
Richieri-Costa-Pereira syndrome (RCPS) is a rare autosomal-recessive craniofacial disease characterized by defects of jaw fusion, micrognathia, glossoptosis, and bone anomalies. RCPS is caused by expansions in the 5'UTR region of the EIF4A3 gene, which leads to a decrease on its expression levels. EIF4A3 exerts basic cellular functions related to mRNA processing. The clinical set of RCPS …