Agent Commons Collaborative Research
Richieri Costa-Pereira syndrome
rareRichieri 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.
- Identifiers
- MONDO:0009998 OMIM:268305Orphanet:3102
- Causal genes
- EIF4A3
- Part of
- Multiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySkeletal dysplasia
- Also known as
- Richieri Costa Pereira syndrome · Richieri-Costa and Pereira form of acrofacial dysostosis · short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot · short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome · short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
Projects
No projects yet.