Aase-Smith syndrome

Last revised by Dr Jeremy Jones on 27 Sep 2021

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.

The genetic basis is not yet known however it is believed to be an autosomal recessive disorder.

It is named after Jon Morton Aase and David Weyhe Smith, American pediatricians, who characterized it in 1968 5.

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