Aase 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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Symptoms Hide

  • Absent or small knuckles
  • Cleft palate
  • Decreased skin creases at finger joints
  • Deformed ears
  • Delayed closure of fontanelles (soft spots)
  • Droopy eye lids
  • Inability to fully extend the joints from birth (contracture deformity)
  • Mildly slowed growth
  • Narrow shoulders
  • Pale skin
  • Triple-jointed thumbs

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    Links

    1. NIH/National Heart, Lung and Blood Institute

      From: CheckOrphan

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    2. Genetic and Rare Diseases (GARD) Information Center

      From: CheckOrphan

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