Aase-Smith Syndrome or Aase syndrome is an inherited disorder that is considered rare and is normally conspicuous as anemia with some deformities in the skeletal structure and joints. This syndrome is considered to be a recessive and autosomal kind of inherited disorder. The basic genetic structure of this disease is not known till now. The anemia is caused due to the underdeveloped bone marrow where the blood cells normally form.
There was an American pediatrician named Jon Morton Aase, and the disease has been named after him. Then it was David Weyhe Smith who gave it a character in the year 1968.
The symptoms of Aase Syndrome disease are very gradual and slow. The skin gets pale, and the growth is mild and slow. There is a gradual closure of soft spots or fontanelles. The shoulders get narrow, and the jointed thumbs get triple. The knuckles are absent, and the skin creases are seen at the joints of the fingers.
The person generally cannot fully extend the joints from birth. These are called congenital contractures. The person has a cleft palate, and the ears are deformed. The eyelids get droopy.
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Tests that are taken
A complete blood count is taken, and this would reveal that the person is frail and shows a decrease in the white blood cell count.
An echocardiogram is taken, and this would reveal heart defects. The ventricular septal defect is the most common. The x-rays show a lot of skeletal abnormalities that are described above. A biopsy of bone marrow also would be performed.
Many blood transfusions are given in the first year to treat the anemia. Prednisone is a medicine that is given, but this should be avoided during infancy as there are many side effects on the growth and the development of the brain. Sometimes the person might need a transplant of the bone marrow if the treatment fails.
This anemia normally gets resolved over the period. There are a lot of complications that are related to anemia, and this includes fatigue, weakness and also decreased oxygenation of the blood. The white blood cells decrease and also alter the body’s capacity to fight infection. There are chances that there could be a heart defect, which could cause many complications that depend on the specific defect. In some severe cases, many cases are associated with early death or stillbirth.
With most genetic diseases, there is no way to prevent the whole disease. These infections are treated in childhood, and there is a lot of recognition given to it. There are a lot of complications of the count of white blood cells, which may be limited.
Aase syndrome causes are never known, and they are never with a known reason. They are normally passed down from families and are normally inherited. Some of the cases have been seen to be inherited as being autosomal dominant, and some are autosomal recessive training.
Aase syndrome is a condition that is seen to affect most women and is very unpredictable. This seemingly inherited disease is very rare and affects women who have a low hemoglobin count.