February 24, 2010

Aase-Smith Syndrome Symptoms

Posted in Category : Bone, Joint & Muscles Disorders

Aase-Smith Syndrome

Aase syndrome is a disorder that is quite rare. This disorder involves deformities in the joints and the skeleton along with chronic anemia. This disorder is also known as the Aase-Smith syndrome after the names of the doctors who discovered it.

The origins of this disorder are still unknown even though significant research has gone into finding an exact cause. The occurrence of this condition remains a mystery as medical science has not been able to pin the cause of this disorder to any genetic or environmental factors.

Recent developments however have been a little more positive. In some cases of Aase Syndrome, it has been found that the disorder has been passed on from one generation to another as an autosomal dominant or recessive trait.
Since the disorder directly affects the skeletal framework of the body, the bone marrow too is affected. As a result of this, the production both the red and the white blood cells is hampered. Thus chronic anemia is caused. This chronic anemia is difficult to treat and no matter how many iron rich foods you eat, the anemia persists.

Aase Syndrome Symptoms

The symptoms of this disease are all related to the skeletal structure of a person. Cleft palates are very common in this disorder. The joints may be abnormal because of which the skin creases at the finger joints are minimal. Some may not have knuckles at all and those who have them have small knuckles. The cartilaginous portion of the ears can also be abnormal which causes the ears to look deformed. The eye lids are often droopy and there is a contracture deformity because of which the person is unable to extend his or her joints fully. The shoulders are slender, often dropped and thumbs have several joints. The skin may or may not turn pale.

Aase syndrome is diagnosed by various tests and examinations. The first test that is done to determine this disorder is a complete blood count test. After this test, if there is enough ground for suspicion, a bone marrow biopsy and an echocardiogram is performed.

The first thing that needs to be treated in this disorder is the anemia. Blood transfusion is initially performed to increase the red blood count of the blood. If all other treatments fail, the only resort is a bone marrow transplant.

Though the anemia improves as the patient grows older, it never completely gets cured. The complications of the disorder are often related to anemia. Due to the decreased oxygen in the body, the patient may experience low levels of energy and constant fatigue.