aase syndrome…

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aase-smith syndrome, aase syndrome, rare, inherited disorder characterized by anemia, joint, skeletal deformities, aase syndrome is thought to be an autosomal dominant inherited disorder, genetic basis, anemia, underdevelopment, the bone marrow, is where blood cells, formed, mildly slowed growth, pale skin, delayed closure of fontanelles, soft spots, narrow shoulders, triple-jointed thumbs, absent, small knuckles, decreased skin creases at finger joints, inability to fully extend the joints from birth, congenital contractures, cleft palate, deformed ears, droopy eye lids, a cbc, complete blood count, anemia, a decrease, in the white blood cell count, an echocardiogram, reveal heart defects, ventricular septal defect, common, x-rays, skeletal abnormalities, a bone marrow biopsy performed, frequent blood transfusions, in the first year of life to treat anemia, prednisone given, avoided in infancy, side effects on growth, brain development, a bone marrow transplant, other treatment fails, anemia, resolves over the years, complications related to anemia include weakness, fatigue, decreased oxygenation, the blood, decreased white blood cells, the body's ability to fight infection, a heart defect exists, multiple complications, depending on the specific defect, severe cases have been associated, still birth, early death, signs of aase syndrome in child, genetic counseling, family history of aase syndrome, most genetic diseases, no method of prevention, prompt recognition, treatment of infections in childhood, complications of low white blood cell counts limited.