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Up to: Skeletal dysplasia · Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Richieri Costa-Pereira syndrome
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.
This condition has no sub-types.