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Richieri Costa-Pereira syndrome

Disease 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.

ORPHA:3102

  • Synonym(s):
    • Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
    • Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 268305
  • UMLS: C1849348
  • MeSH: C535677
  • GARD: 4718
  • MedDRA: -

Additional information

Further information on this disease

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