Details of Disease

General Information of Disease (ID: DISDQOSK)

• Disease Name: Richieri Costa-Pereira syndrome
• Synonyms: ROBIN sequence with cleft mandible and limb anomalies; Richieri Costa Pereira syndrome; Richieri-Costa and Pereira form of acrofacial dysostosis; Richieri-Costa-Pereira syndrome; short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot; Richieri Costa-Pereira syndrome; short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
• 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.
• Disease Hierarchy:
  DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
  DIS5Z8U6: Skeletal dysplasia
  DISDQOSK: Richieri Costa-Pereira syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009998
  MESH ID: C535677
  UMLS CUI: C1849348
  OMIM ID: 268305
  MedGen ID: 336581
  Orphanet ID: 3102
  SNOMED CT ID: 723998001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EIF4A3	OTYYFE7K	Definitive	Autosomal recessive	[1]

References

• [1] A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. Am J Hum Genet. 2014 Jan 2;94(1):120-8. doi: 10.1016/j.ajhg.2013.11.020. Epub 2013 Dec 19.