Richieri Costa-Pereira Syndrome

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

EIF4A3, TLR4

Drugs

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Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.