Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.
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.
The anemia in Aase syndrome is caused by poor development of the bone marrow, which is where blood cells are formed.
Signs may include:
Tests that may be done include:
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. 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.
Call your health care provider if you notice possible signs of Aase syndrome in your child. Genetic counseling is recommended if you have a family history of Aase syndrome. Genetic counseling can help families understand issues such as how the disease is inherited, and the care, treatment, and possible outcome of the patient.
There is no known prevention.
Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome