Aase Syndrome, also known as Aase-Smith Syndrome, is a rare disease that causes problems like constant anemia and malformations in the joints and bones of various parts of the body.
Some of the most common malformations include:
- Joints, fingers or toes, small or absent;
- Cleft palate;
- Deformed ears;
- Drooping eyelids;
- Difficulty in stretching the joints completely;
- Narrow shoulders;
- Very pale skin;
- Gut joint in thumbs.
This syndrome arises from birth and occurs due to a random genetic mutation during pregnancy, and is therefore, in most cases, a non-hereditary disease. However, there are some cases in which the disease can pass from parents to children.
How is the treatment done?
Treatment is usually indicated by the pediatrician and includes blood transfusions during the first year of life to help control anemia. Over the years, anemia is becoming less pronounced, so transfusions may no longer be necessary, but it is advisable to have frequent blood tests to check red blood cell levels.
In more severe cases, where it is not possible to balance red blood cell levels with blood transfusions, a bone marrow transplant may be necessary. See how this treatment is done and what the risks are.
Malformations rarely require treatment, as they do not detract from daily activities. But if this happens, your pediatrician may recommend surgeries to try to rebuild the affected site and return the function.
What can cause this syndrome
The Aase-Smith syndrome is caused by a change in one of the 9 most important genes for the formation of proteins in the body. This change usually happens randomly, but in more rare cases it may pass from parent to child.
That way, when there are cases of this syndrome it is always recommended to have consultations of genetic counseling before becoming pregnant to know the risk of having children with the disease.
How is the diagnosis made?
The diagnosis of this syndrome can be made by the pediatrician only through observation of the malformations, but to confirm the diagnosis, the doctor may request a bone marrow biopsy.
Already to identify if there is anemia associated with the syndrome, it is necessary to do a blood test to evaluate the amount of red blood cells.
