Below you will find more information about Aase Smith syndrome (or Aase syndrome) from Medigest. If you believe that you are suffering from any of the symptoms of Aase Smith syndrome (or Aase syndrome) it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Aase Smith syndrome (or Aase syndrome) and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Aase Smith syndrome (or Aase syndrome) comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.
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.
Just like most diseases that are genetic in origin, there is no way to prevent this condition. The complications could be limited if all of the infections are properly treated (especially in the case of low counts of white blood cells).
A complete blood count or CBC will manifest a case of anemia where the white blood cells have noticeably low number. Another test is the echocardiogram which may show defects of the heart (the most common defect appears to be the failing of ventricle in the septum). The patient could also undergo x-ray tests to show any abnormalities on his skeletal system. A biopsy for the bone marrows may also be done.
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.
Symptoms and Signs
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.
It is believed that anemia is resolved as the patient ages. This is possible as long as the symptoms have been managed.
Oxygenation of the blood can be decreased due to this syndrome and this could also result to fatigue and much weakness. Complications of the heart could result from a single defect especially when treatment has not been given immediately. The most dismal cases involve early death or still birth.Discuss Aase Smith syndrome (or Aase syndrome) in our forums
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