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Congenital Anemia-Triphalangeal Thumb Syndrome

Last updated July 27, 2019

Approved by: Krish Tangella MD, MBA, FCAP

Aase Syndrome (or Aase-Smith Syndrome II) is a highly infrequent disorder. Individuals with this disorder show a variety of signs and symptoms at birth, characteristic features of which include, congenital hypoplastic anemia and triphalangeal thumbs.


The topic Congenital Anemia-Triphalangeal Thumb Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Aase Syndrome.

Quick Summary:

  • Aase Syndrome (or Aase-Smith Syndrome II) is a highly infrequent disorder. Individuals with this disorder show a variety of signs and symptoms at birth, characteristic features of which include, congenital hypoplastic anemia and triphalangeal thumbs
  • Congenital hypoplastic anemia is a condition, in which the population of red blood cells is decreased because of reduced bone marrow production
  • Triphalangeal thumb is a term meant to denote 3 phalanges (finger bones) in the thumb, as against 2 phalanges in a normally developed thumb
  • The presence of both congenital hypoplastic anemia and triphalangeal thumbs, are necessary for a clinical diagnosis of Aase Syndrome
  • The prognosis of this disorder depends upon the severity of the syndrome

Please find comprehensive information on Aase Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Sept. 4, 2017
Last updated: July 27, 2019