ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Aase syndrome

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