To use all functions of this page, please activate cookies in your browser.
my.bionity.com
With an accout for my.bionity.com you can always see everything at a glance – and you can configure your own website and individual newsletter.
- My watch list
- My saved searches
- My saved topics
- My newsletter
Aase syndrome
Aase syndrome or Aase-Smith syndrome is a rare inherited disorder characterized by anemia with some joint and skeletal deformities. Aase syndrome is thought to be an autosomal dominant inherited disorder. The genetic basis of the disease is not known. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed. It is named after the American paediatricians Jon Morton Aase and David Weyhe Smith. Additional recommended knowledge
Symptoms
Signs and tests
TreatmentFrequent blood transfusions are given in the first year of life to treat anemia. Prednisone may be given, although this should be avoided in infancy because of side effects on growth and brain development. A bone marrow transplant may be necessary if other treatment fails. PrognosisAnemia usually resolves over the years. Complications
PreventionAs with most genetic diseases there is no way to prevent the entire disease. With prompt recognition and treatment of infections in childhood, the complications of low white blood cell counts may be limited. References
Categories: Genetic disorders | Syndromes |
|||||
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Aase_syndrome". A list of authors is available in Wikipedia. |