Aase Syndrome Learning Center

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Welcome

Aase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities.

Basic Info

Symptoms
Absent or small knuckles; Cleft palate; Decreased skin creases at finger joints; Deformed ears; Delayed closure of font...
Causes
Most cases of Aase syndrome occur without a known reason and are not passed down through families (inherited. However, ...
Tests
Tests that may be done include: Bone marrow biopsy; Complete blood count (CBC; Echocardiogram; X-rays.
Treatments
Blood transfusions are given in the first year of life to treat anemia. Prednisone has also been used to treat anemia a...
Drugs
  • predniSONE
Complications
Complications related to anemia include weakness, fatigue, and decreased oxygenation of the blood. Heart problems can l...
Prevention
There is no known prevention.
Doctor Specialties
Call your health care provider if you notice possible signs of Aase syndrome in your child. Genetic counseling is recom...

Basic Info

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