Richieri Costa Pereira syndrome
Other Names: Robin sequence with cleft mandible and limb anomalies; Richieri-Costa and Pereira form of acrofacial dysostosis; Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot
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.
NIH genetic and rare disease info[edit source]
Richieri Costa Pereira syndrome is a rare disease.
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