Richieri Costa Pereira syndrome

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

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.

Visit the Orphanet disease page for more resources.

Last updated: 4/1/2007

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