Aase syndrome is a rare disorder that involves
Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb 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.
This condition is similar to Diamond-Blackfan anemia, and the two conditions should not be separated. A missing piece on chromosome 19 is found in some people with Diamond-Blackfan anemia.
The anemia in Aase syndrome is caused by poor development of the bone marrow, which is where blood cells are formed.
- Absent or small knuckles
- Decreased skin creases at finger joints
- Deformed ears
- Droopy eyelids
- Inability to fully extend the joints from birth (
- Narrow shoulders
- Triple-jointed thumbs
Exams and Tests
The doctor will perform a physical exam. Tests that may be done include:
Bone marrow biopsy Complete blood count(CBC) Echocardiogram
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.
The anemia tends to improve with age.
Complications related to anemia include:
Decreased oxygen in the blood
Heart problems can lead to a variety of complications, depending on the specific defect.
Severe cases of Aase syndrome have been associated with
Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.