Alternate Names: Aase-Smith syndrome

Causes and Risks: Aase syndrome is thought to be an autosomal recessive inherited disorder. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed.

Symptoms:

• mildly slowed growth
• pale skin
• delayed closure of fontanelles (soft spots)
• narrow shoulders
• triple jointed thumbs

Signs and Tests:

• A CBC will show anemia and a decrease in the white blood cell count.
• An echocardiogram may reveal heart defects (ventricular septal defect is most common).
• X-rays will show skeletal abnormalities as described above.
• A bone marrow biopsy may be performed.

Treatment: Frequent blood transfusions are given in the first year of life to treat anemia. Prednisone may be given, although this should be avoided in infancy because of side effects on growth and brain development. A bone marrow transplant may be necessary if other treatment fails.

Prognosis: Anemia usually resolves over the years.

Complications:

• Complications related to anemia include weakness, fatigue, and decreased oxygenation of the blood.
• Decreased white blood cells alter the body’s ability to fight infection.
• If a heart defect exists, it may cause multiple complications (depending on the specific defect).

Call your health care provider if you notice possible signs of Aase syndrome in your child.