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Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome
Treatment may involve blood transfusions in the first year of life to treat anemia.
A steroid medication called prednisone has also been used to treat anemia associated with Aase syndrome. However, it should only be used after reviewing the benefits and risks with a doctor who has experience treating anemias.
A bone marrow transplant may be necessary if other treatment fails.
The anemia tends to improve with age.
Complications related to anemia include:
Heart problems can lead to a variety of complications, depending on the specific defect.
Severe cases of Aase syndrome have been associated with stillbirth or early death.