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Richieri Costa-Pereira syndrome

Disease Summary
Associated Targets (1)
Tchem

1


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Mondo Description 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.
Uniprot Description A syndrome characterized by a unique pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of mandible, cleft palate/Robin sequence, absence of central lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding.
Mondo Term and Equivalent IDs
MONDO:0009998:  Richieri Costa-Pereira syndrome
GARD:0004718: 
MESH:C535677: 
Orphanet:3102: 
SCTID:723998001: 
UMLS:C1849348: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found