Aase syndrome

Aase-Smith syndrome (or Aase syndrome) is an extremely rare congenital disorder characterized by anemia and skeletal deformity.

Epidemiology

Aase-Smith syndrome has a prevalence of less than 1 per 1,000,000 persons. There have only been 20 reported cases

Clinical presentation

Pathology

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 .

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