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Richieri Costa-Pereira syndrome

ORPHA3102
Synonym(s) Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot
Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
OMIM
UMLS
  • C1849348
MeSH
  • C535677
MedDRA -

Summary

This 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.


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