Aase syndrome

Alternative Names

Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome

Definition of Aase syndrome

Aase syndrome is a rare disorder that involves 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.

Signs and tests

Signs may include:

Treatment

Blood transfusions are given in the first year of life to treat anemia. Prednisone has also been used to treat anemia associated with Aase syndrome. However, it should only be used after reviewing the benefits and risks with a doctor who has experience treating anemias.

Expectations (prognosis)

The anemia tends to improve with age.

Review

Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 8/11/2009

ADAM Medical Encyclopedia

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