Aase Smith syndrome

Overview

Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities. Alternative Names(Aase-Smith syndrome)

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  • Reduced red cell production
  • Three bones in thumb (instead of two)
  • Hydrocephaly
  • Multiple contractures of the joints
  • Narrow shoulders
  • Dandy-Walker anomaly
  • Deformed ears
  • Droopy eyes
  • Retinopathy
  • Mild growth retardation
  • Late closure of fontanels
  • Cleft lip

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