Aase syndrome, also known as Aase-Smith syndrome, is a rare disease that causes problems such as constant anemia and malformations in the joints and bones of various parts of the body.
Some of the most frequent malformations include:
- Joints, fingers or toes, small or absent; Cleft palate; Deformed ears; Droopy eyelids; Difficulty in fully stretching the joints; Narrow shoulders; Very pale skin; Gut joint in the thumbs.
This syndrome arises from birth and happens due to a random genetic mutation during pregnancy, which is why, in most cases, it is a non-hereditary disease. However, there are some cases where the disease can pass from parents to children.
How the treatment is done
Treatment is usually indicated by a pediatrician and includes blood transfusions during the first year of life to help control anemia. Over the years, anemia has become less pronounced, so transfusions may no longer be necessary, but it is advisable to have frequent blood tests to assess red blood cell levels.
In the most severe cases, where it is not possible to balance red blood cell levels with blood transfusions, it may be necessary to have a bone marrow transplant. See how this treatment is done and what the risks are.
Malformations rarely require treatment, as they do not impair daily activities. But if this happens, the pediatrician may recommend surgery to try to reconstruct the affected area and restore function.
What can cause this syndrome
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 can pass from parents to children.
Thus, when there are cases of this syndrome, it is always recommended to make genetic counseling consultations before becoming pregnant, to find out the risk of having children with the disease.
How the diagnosis is made
The diagnosis of this syndrome can be made by the pediatrician only by observing the malformations, however, to confirm the diagnosis, the doctor may order a bone marrow biopsy.
To identify if there is anemia associated with the syndrome, it is necessary to do a blood test to assess the amount of red blood cells.
