Richieri Costa-Pereira syndrome

Richieri Costa-Pereira syndrome is a rare condition that affects growth and development. People with this condition often have short stature, a characteristic facial sequence known as the Robin sequence (which includes a small jaw), and a cleft mandible. In addition, other features include hand anomalies (with issues on both sides of the hand, such as underdeveloped thumbs) and clubfoot. Some individuals also present with prominent low-set ears and a highly arched palate. This syndrome has been described in several families, primarily from Brazil, with one reported case in a French patient. It is important to note that it is inherited in an autosomal recessive manner, meaning that both parents must carry an altered gene for a child to be affected. This genetic pattern, along with the identified association with the EIF4A3 gene, helps in understanding the condition.

People with Richieri Costa-Pereira syndrome typically show a collection of physical features including short stature, a small lower jaw (cleft mandible), and a Robin sequence. They may also have hand anomalies, such as underdeveloped thumbs, and clubfoot. Additional observations include low-set ears and a highly arched palate.

Richieri Costa-Pereira syndrome is inherited in an autosomal recessive way, which means that a person needs to receive a copy of the altered gene from both parents. The condition has been linked to changes in the EIF4A3 gene. This genetic background helps explain why the syndrome tends to appear in families.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.