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Disease: Short stature Robin sequence cleft mandible hand anomalies clubfoot

  • Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet in male patients
  • Richieri-costa and Pereira syndrome: severe phenotype
  • Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome
  • Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: another affected Brazilian patient born to consanguineous parents
  • The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant
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About CheckOrphan

CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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