Aase Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Definition
Aase syndrome is a very rare congenital disorder with a wide variety of symptoms. But generally characterized by anemia and anatomical abnormalities in the thumb.
This disease is sometimes also called Aase-Smith II syndrome, congenital anemia-triphalangeal thumb syndrome, or hypoplastic anemia-triphalangeal thumbs. Based on existing research, up to now there have been reports of Aase Syndrome from all over the world as many as 20 cases.
Aase syndrome is genetically inherited. Both men and women have the same risk of developing this disease.
Aase Syndrome Symptoms
The signs and symptoms of Aase syndrome can vary widely. The main symptoms that occur in most sufferers are anemia that occurs due to failure of the bone marrow, and the thumb has an additional bone segment (under normal circumstances, the thumb is made up of two bones).
Other symptoms can include:
- The child’s growth is slower than it should be
- The large fontanel closes late
- Abnormal ear shape
- Cleft lip, gums, or palate
- The eyelids curl downward
- Presence of congenital heart disease
With the medical conditions experienced by sufferers of Aase syndrome, some of the complications that can occur are:
- Easily tired and weak due to anemia experienced
- Congenital heart disease that causes the heart to swell and fail to pump blood throughout the body
- If the white blood cells are low, the child is very susceptible to severe infections
- Died at a young age
Aase Syndrome Reason
Although genetically inherited, the exact cause of Aase syndrome is still unknown to date. In addition, it is not clear which gene causes this disease.
Diagnosis
In the early stages of determining the diagnosis of Aase syndrome, a complete medical interview is required, including a family history of genetic disorders, and a thorough physical examination. After that, it is necessary to carry out laboratory tests.
In Aase syndrome, there is a decrease in the number of red blood cells (anemia) and a decrease in white blood cells (leukopenia). To prove that the decrease in the number of blood cells is due to a disturbance in the bone marrow, it is necessary to do a bone marrow biopsy.
To see abnormalities in the bones and joints of the fingers that are usually found in people with Aase syndrome, an X-ray examination is also carried out. In addition, if congenital heart disease is suspected, the doctor will suggest an echocardiography examination. All of these examinations should be done by a pediatrician.
Aase Syndrome Treatment
Aase syndrome cannot be cured. The treatment is supportive, meaning that the treatment is only to reduce the complaints experienced by the sufferer.
Anemia that occurs is treated by giving red blood cell transfusions. Generally, blood transfusions are carried out routinely. To overcome anemia and low white blood cells, the most effective way is to do a bone marrow transplant.
If there is congenital heart disease, the condition is treated with surgery.
Good management of Aase syndrome involves the collaboration of pediatricians, development experts, thoracic and cardiovascular surgeons, nutritionists, and so on. In order to avoid dangerous complications, sufferers of Aase syndrome are advised to routinely visit a doctor.
Prevention
Because the cause is not known with certainty until now Aase syndrome cannot be prevented. The action that can be taken is to carry out early detection so that supportive treatment can be carried out before complications occur.
If someone who has Aase syndrome plans to have children, he and his partner should first carry out genetic counseling with a geneticist to be able to check how likely the child to be born will also have this syndrome.