Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities. Alternative Names(Aase-Smith syndrome)
Most cases of Aase syndrome occur without a known reason and are not passed down through families (inherited). However, some cases have been shown to be inherited as an autosomal dominant and autosomal recessive traitn.
The anemia associated with Aase syndrome is caused by underdevelopment of the bone marrow, which is where blood cells are formed.
There is no known prevention.
The anemia tends to improve with age.
Blood transfusions are given in the first year of life to treat anemia. Prednisone has also been used to treat anemia associated with Aase syndrome, but 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.
Call your health care provider if you notice possible signs of Aase syndrome in your child. Genetic counseling is recommended if there is a family history of Aase syndrome.