/Richieri Costa-Pereira syndrome

Richieri Costa-Pereira syndrome

Rare Disease

MONDO:0009998

Also Known As

Richieri Costa-Pereira syndromeshort stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndromeshort stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndromeROBIN sequence with cleft mandible and limb anomaliesRichieri Costa Pereira syndromeRichieri-Costa and Pereira form of acrofacial dysostosisRichieri-Costa-Pereira syndromeshort stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot

Definition

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.