Richieri Costa-Pereira syndrome

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Richieri Costa-Pereira syndrome

Synonyms: Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome | Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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