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Richieri-Costa-Pereira syndrome (RCPS) is a rare autosomal recessive acrofacial dysostosis characterized by microstomia, micrognathia, cleft palate/Robin sequence, mandibular cleft, laryngeal malformation, radial hypoplastic, fifth ray hypoplasia, tibial hypoplasia, and club.

The prevalence is less than 1 in 100,000 individuals. To date, only 42 affected individuals have been described in the literature. Most of them are from Brazil, with one case reported in France and another in England. The Brazilian cases come from an isolated region, geographically constrained, known as “Vale do Ribeira” in São Paulo state. The high incidence of consanguineous mating in these families suggests a founder effect. Linkage analysis and sequencing of the candidate homozygous region identified Richieri-Costa-Pereira syndrome as being caused by an increased number of repeat motifs at the 5´UTR of the EIF4A3gene in the 17q25.3 chromosomal region. Affected individuals are homozygous for the repeat motifs (14–16 repeats), inherited from heterozygous parents. Two Brazilian siblings with a milder phenotype were compound heterozygotes for EIF4A3, carrying one allele with 14 repeats and the other harboring a point mutation (c.14rep/c.809A>G).