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Aase Syndrome

Abstract

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Synonyms of Aase Syndrome

  • Aase-Smith Syndrome II
  • Congenital Anemia and Triphalangeal Thumbs
  • Hypoplastic Anemia-Triphalangeal Thumbs, Aase-Smith Type

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Aase syndrome is a rare genetic disorder that may be detected during early infancy. The disorder is primarily characterized by the presence of three bones (phalanges) within the thumbs (triphalangeal thumbs) rather than the normal two and abnormally reduced production of red blood cells (hypoplastic anemia). In some instances, additional abnormalities may be present. The exact cause of Aase syndrome is unknown. However, most evidence suggests that the disorder is inherited as an autosomal recessive trait.

Organizations related to Aase Syndrome

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