Health Encyclopedia

Aase syndrome

Definition

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

Alternative Names

Aase-Smith syndrome

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 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.

Symptoms

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

Signs and tests

Tests that may be done include:

Treatment

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.

Expectations (prognosis)

The anemia tends to improve with age.

Complications

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.

Calling your health care provider

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.

Prevention

There is no known prevention.

Review Date:7/2/2007
Reviewed By:Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.

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