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Aase Syndrome

Overview

It is a rare inherited disorder, which is autosomal dominant, which means that defective genes are located on the somatic chromosomes of somatic body cells. Dominant because the genes on both the alleles have some defect present, only one defective gene on one allele can not cause the disease. This syndrome is presented with the:

  • Skeletal deformities
  • Joint deformities
  • Anaemia

There is basically an underdevelopment of bone marrow in which blood cells formed.


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Causes

There is no known reason for most cases of Aase syndrome and the disorder is not alsways passed down through families (inherited). However, some cases have been shown to be inherited. The anemia in Aase syndrome can be caused by poor development of the bone marrow, which is where blood cells are formed.


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Signs & Symptoms

Individuals with Aase syndrome commonly show:

  • Hypoplastic anemia (reduced production of red blood cells) in the first year of life. The anemia is typically responsive toprednisone therapy and tends to improve with age.  
  • Skeletal findings may include bilateral triphalangeal (triple jointed) thumbs  
  • Mild radial hypoplasia (underdevelopment of the forearm)
  • Narrow shoulders  
  • Late closure of the fontanels (soft spots). Mild growth deficiency has been reported in some patients.
  • Other findings may include webbed neck, absent or small knuckles, decreased skin creases at finger joints, deformed ears  
  • Droopy eyelids 
  • Inability to fully extend the joints from birth (congenital contractures)
  • Pale skin
  • Cleft lip and/or palate.
     

 

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Prevention

There is no known prevention.


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Treatments
Stem Cell Transplantation Modern Medicine

Most genetic diseases do not have any treatment. Aase syndrome can be treated by Heamatopoietic stem cell transplantation, bone marrow transplantation.

Prednisone, which is a corticosteroid, can also be given with the blood transfusion. 

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