What is Aase Smith Syndrome?

May 16 23:52 2019 Print This Article

It is also known as the Aase syndrome. It is inherited and is autosomal dominant. There is an underdevelopment of the bone marrow. It forms the blood cells which may lead to anemia. It is named after the pediatricians of America which are known as the J M Aase and D W Smith. The genetic cause is still unidentified.

What are the signs and symptoms of Aase Syndrome?

1. It shows a mild growth with a pale skin.

2. The fontanalles are closed late and they have a narrow shoulder. fontanalles refer to the anatomical feature on an infant’s skull.

3. The ears are improper in shape and the eye lids are droopy.

4. They have a cleft( cracked) palate (the upper portion of the mouth which separates oral and nasal cavities ) with inability of the joints to extend fully.

5. The thumbs are triple jointed and there are no knuckles.

6. The skin crease is decreased in the finger joints.

What is the diagnosis of Aase Syndrome?

The diagnosis of this syndrome is established by the complete blood cell count. It shows anemia and decrease in the white blood cells.

An ECG is also done which reveals the heart problems including ventricular septal defect.

The bone marrow biopsy is also helpful. The skeletal abnormalities are detected by the x ray.

What are the prognosis and treatment of Aase Syndrome?

It takes many years to resolve and there is a need of frequent blood transfusions which help in the treatment of anemia. Sometimes steroids such as prednisolone are also very helpful. But they must not be given in the infancy as they effect the growth and development of brain. The bone marrow transplant can also be helpful.

What are the prevention and complications of Aase Syndrome?

There is no preventive strategy in this syndrome. The infections must be treated accordingly and the low white blood cell count may lead to the infections.

1. It may lead to the weakness, fatigue and low oxygenation of blood.

2. The low numbers of white blood cells affect the fighting ability of individual to infections.

3. There are multiple complications if heart defects are present. The still birth and early death are also associated with it.