Aase-Smith syndrome (or Aase syndrome) is an extremely rare congenital disorder characterized by anemia and skeletal deformity.
Aase-Smith syndrome has a prevalence of less than 1 per 1,000,000 persons. There have only been 20 reported cases
It is believed to be due to an underdeveloped bone marrow
Genetics
The genetic basis is not yet known however it is believed to be an autosomal recessive disorder
Associations
History and etymology
It is named after Jon Morton Aase and David Weyhe Smith, American pediatricians, who characterized it in 1968 5.
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