Definition of Aase syndrome:

Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.

Causes, incidence, and risk factors:

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.

Symptoms:

• Absent or small knuckles
• Cleft palate
• Decreased skin creases at finger joints
• Deformed ears
• Droopy eyelids
• Inability to fully extend the joints from birth (contracture deformity)
• Narrow shoulders
• Pale skin
• Triple-jointed thumbs

Signs and tests:

The doctor will perform a physical exam. Tests that may be done include:

• Bone marrow biopsy
• Complete blood count (CBC)
• Echocardiogram
• X-rays

Treatment:

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.

A bone marrow transplant may be necessary if other treatment fails.

Expectations (prognosis):

The anemia tends to improve with age.

Complications:

Complications related to anemia include:

• Fatigue
• Decreased oxygen in the blood
• Weakness

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.

Prevention:

Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.