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Aase-Smith syndrome

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.

Article information

rID: 14914
Section: Syndromes
Synonyms or Alternate Spellings:
  • Aase syndrome
  • Aase Smith syndrome
  • Hypoplastic anemia triphalangeal thumb syndrome
  • Congenital anemia and triphalangeal thumbs

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