What Is Aase-Smith Syndrome?


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There are a number of syndromes and diseases that human beings suffer from. Some of these are developed during the course of our lives, while there are others that are inherited. These latter ailments are genetic, and people are born with them. One such is the Aase-Smith Syndrome. This is not a disease, but a set of deformities that infants exhibit at birth. The primary characteristics of a person with Aase-Smith syndrome are anemia and deformity of the joints. A person suffering from this syndrome exhibits the symptoms that characterize it right from birth. She or he will usually be anemic and also a range of bone deformities. In fact, the anemia is also because of improper development of the bone marrow, the center for formation of the blood in the body. The deformities Aase-Smith syndrome patients exhibit are pretty wide-ranging, from a split palate to an extra bone in the thumbs, missing knuckles, unusually slim fingers, and clubbed feet. Besides these, a patient may also have eyelids that droop unusually, cardiac defects, abnormally-formed ears, and also hydrocelaphus.

The disease is named after Jon Aase and David W. Smith, and affects both men and women. You must remember that patients cannot contract this ailment during their lives; they are usually born with it.

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