Aase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities.

Aase syndrome is thought to be an autosomal dominant inherited disorder. The genetic basis of the disease is not known. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed.

• Mildly slowed growth
• Pale skin
• Delayed closure of fontanelles (soft spots)
• Narrow shoulders
• Triple-jointed thumbs, absent or small knuckles, decreased skin creases at finger joints
• Inability to fully extend the joints from birth (congenital contractures)
• Cleft palate
• Deformed ears
• Droopy eye lids

• A CBC (complete blood count) 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.

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.

Anemia usually resolves over the years.

• 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).
• Severe cases have been associated with still birth or early death.

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.

As with most genetic diseases there is no method of prevention. With prompt recognition and treatment of infections in childhood, the complications of low white blood cell counts may be limited.