Aase syndrome

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

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 as an autosomal dominant and autosomal recessive traitn.

The anemia associated with Aase syndrome is caused by underdevelopment of the bone marrow, which is where blood cells are formed.

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

Tests that may be done include:

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

Blood transfusions are given in the first year of life to treat anemia. Prednisone has also been used to treat anemia associated with Aase syndrome, but 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.

The anemia tends to improve with age.

Complications related to anemia include weakness, fatigue, and decreased oxygenation of the blood.

Heart problems can lead to a variety of complications, which depend on the specific defect.

Severe cases of Aase syndrome 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.

There is no known prevention.