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Aase syndrome - Overview

Alternative Names

Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome

Definition of Aase syndrome:

Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.

Causes, incidence, and risk factors:

Most cases of Aase syndrome occur without a known reason and are not passed down through families (inherited). However, some cases have been shown to be inherited.

The anemia in Aase syndrome is caused by poor development of the bone marrow, which is where blood cells are formed.

  • Reviewed last on: 8/4/2011
  • Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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