Aase Smith syndrome also known as Aase syndrome is a very rare disorder that can be inherited. It is often characterized by skeletal and joint defects. Aase syndrome is known as an autosomal dominant condition. The genetic origin of the illness is still not known. Anemia which results from this syndrome is often caused by the underdevelopment of bone marrows. These bone marrows are where formation of blood cells takes place. The syndrome was named after two pediatricians who were David Weyhe Smith and Jon Morton Aase.
Some of the most common traits that can be found are: mild retardation on a person's growth; a skin that appears pale; a setback on the closure of the soft spots or fontanelles; thin shoulders; thumbs that appear to have three joints; little knuckles; very little finger joint creases; inborn contractures; cleft palate; ears that are deformed; and eyelids that droop.
For patients with complications on anemia, it is advisable that frequent transfusion of blood be done (especially on the primary year of life). Prednisone can be administered but this should be evaded during infancy as this medicine can badly affect the development of brain and also the child's growth. If all other treatment fails, then a bone marrow transplant is necessary.
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