What is Aase Syndrome?

A rare syndrome that affects joints and the skeleton with deformities, and involves anemia, Aase syndrome can be caused by poor development of bone marrow. Most cases, however, the cause is unknown.

Anemia

When the body doesn't have enough red blood cells that are healthy the condition is called anemia. Most of the work of making red blood cells is done in the bone marrow, the center of the bones where the soft tissue lays. These red blood cells give body tissues oxygen and usually last 90 to 120 days, according to PubMed Health. Anemic people do not have enough hemoglobin in the their blood, the protein that carries oxygen and gives the red color to the red blood cells.

Symptoms

Some of the signs of this condition include a cleft palate, small or absent knuckles, deformed ears, droopy eyelids, decreased skin creases at the joints of fingers, narrow shoulders, pale skin, triple jointed thumbs, and the inability to fully extend joints from birth.

Diagnosis

A physical exam is the main diagnostic test for this condition, as signs are pretty obvious. Other tests that may happen are x-rays, bone marrow biopsy, an echocardiogram, and a CBC blood test.

Treatment

Anemia may be treated by blood transfusions while in the first year of life. Other treatments include prednisone therapy. If the treatment fails, a bone marrow transplant may be needed. Anemia typically improves as the patient ages. There are some complications that may occur, these can be fatigue, weakness, and a decreased amount of oxygen in the blood. Severe forms of the condition may lead to early death or stillbirth.

Source: A.D.A.M., PubMed Health