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Dr. Andrew Rynne
Dr. Andrew Rynne

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Exp 50 years

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Article Home Children's Health Aase Syndrome or Aase smith syndrome

Aase Syndrome or Aase smith syndrome

It is a rare inherited disorder charecterized by anemia withjoint and skeletal deformities. It is an autosomal dominant inherited disorder. The cause is not known. The anemia in this syndrome is caused by underdevelopment of the bone marrow whre the blood cells are formed.

It is charecterized by the following symptoms

  • Mild slow growth.
  • Pallor.
  • Delayed close of fontanelles.
  • Narrow shoulders.
  • Cleft palate.
  • Deformed ears.
  • Drooping eye lids.
  • Triple jointed thumbs.
  • Absent or small knuckles.
  • Decreased skin creases at finger joints.
  • Inability to extend the joints to the full extent from birth (congenital cointractures).

Tests and diagnosis



  • Complications of anemia like weakness, fatigue, decreased oxygenation.
  • Decreased white blood cells affects immunity.
  • Heart defects.
  • Still births and deaths.