Richieri-Costa-Pereira syndrome (RCPS)is a very rare genetic condition that is passed down when both parents carry the same change in the gene (autosomal recessive inheritance). Children with RCPS may have differences in the face, mouth, and bones. Common features include: small mouth and small lower jaw, cleft palate or Robin sequence (a small jaw that can cause breathing and feeding difficulties), changes in the voice box (larynx), differences in the bones of the arms, hands, legs, or feet (for example, missing or smaller bones, clubfoot).
RPCS happens because of a change in a gene called EIF4A3, located in a region of chromosome 17. This change occurs in a part of the gene that does not code for protein (called the 5´UTR), where a small DNA sequence is repeated many times. This is the most common type of change in RCPS. Most people with RCPS have inherited two copies of this change (one from each parent). Parents usually do not have the condition themselves, because they carry only one copy of the change. The diagnosis can be confirmed by genetic test. Genetic Counseling is recommended, as the recurrence risk is 25%.