Aase-Smith syndrome

Aase-Smith syndrome is an extremely rare congenital disorder.

Clinical features

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 automsomal recessive disorder

Associations

History and etymology

It is named after Jon Morton Aase and David Weyhe Smith (American paediatricians)  who characterized it in 1968 5

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Article Information:

rID: 14914
Section: Syndromes
Tags: cases, syndrome
Synonyms or Alternate Spellings:
  • Aase syndrome
  • Aase Smith syndrome
  • Hypoplastic anemia/Triphalangeal thumb syndrome
  • Congenital Anemia and Triphalangeal Thumbs

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