What is Aase syndrome?

Aase syndrome is a rare genetic disorder that affects a child's development. Aase syndrome can be detected at birth.

Characteristic of Aase syndrome is a malformation of the three knuckles instead of the usual two. Children with Aase syndrome will have an abnormally low number of red blood cells. To date, studies have not determined exactly what causes Aase syndrome. At present, it can only be concluded that the cause of the disorder is genetic.
Anemia caused by Aase syndrome can make patients feel tired, pale, have no energy, reduce oxygen in the blood leading to cardiovascular problems.

Children with Aase syndrome can be clearly seen with the naked eye with signs such as:
Children with trisciatica Children with cleft palate The skin at the knuckles is less wrinkled. Hand joints Swollen eyes Narrow shoulders Pale skin These symptoms can vary depending on the location of each child and the severity of the disease. The early diagnosis of Aase syndrome is of great value, helping to treat and prevent the condition from becoming more serious. If you see any unusual signs in your child, you should talk to your doctor as soon as possible.

The exact cause of Aase syndrome is still unknown. Many cases are hereditary, and in many cases the cause is unknown. Aase syndrome is similar to Diamond-Blackfan anemia. Some patients with Diamond-Blackfan anemia have a missing piece on chromosome 19. In addition, anemia in Aase syndrome is caused by underdeveloped bone marrow.
Children born into families with a history of Aase syndrome have a higher risk of developing the disease than the general population.

When a child shows signs of suspected Aase syndrome, the doctor will give the child a special test and a comprehensive physical examination, noting the symptoms the child is having. After that, the child will have some tests such as:
X-ray - X-ray Echocardiogram Counting all blood cells: Checking the blood cell count, including: Red blood cell count, white blood cell count, a small portion of blood consisting of red blood cells and the total amount of hemoglobin in the blood Bone marrow biopsy : Taking a sample of the bone marrow (the soft tissue inside the bone) - this is the part that helps make blood cells Treat anemia in the Aase syndrome can be treated with blood transfusion and medication in the first year. In severe cases that do not respond to the above methods, the patient may be considered for treatment with a bone marrow transplant.
Vinmec International General Hospital with a system of modern facilities, medical equipment and a team of experts and doctors with many years of experience in medical examination and treatment, patients can rest assured to visit. examination and treatment at the Hospital.

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