Print    Email
Decrease (-) Restore Default Increase (+)

Health Information

 
Read More
In-Depth Reports
More Features
 

Aase syndrome

Definition

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

Alternative Names

Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome

Causes

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.

This condition is similar to Diamond-Blackfan anemia, and the two conditions should not be separated. A missing piece on chromosome 19 is found in some people with Diamond-Blackfan anemia.

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

Symptoms

  • Absent or small knuckles
  • Cleft palate
  • Decreased skin creases at finger joints
  • Deformed ears
  • Droopy eyelids
  • Inability to fully extend the joints from birth (contracture deformity)
  • Narrow shoulders
  • Pale skin
  • Triple-jointed thumbs

Exams and Tests

The doctor will perform a physical exam. Tests that may be done include:

Treatment

Treatment may involve blood transfusions in the first year of life to treat anemia.

A steroid medication called 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.

A bone marrow transplant may be necessary if other treatment fails.

Outlook (Prognosis)

The anemia tends to improve with age.

Possible Complications

Complications related to anemia include:

  • Fatigue
  • Decreased oxygen in the blood
  • Weakness

Heart problems can lead to a variety of complications, depending on the specific defect.

Severe cases of Aase syndrome have been associated with stillbirth or early death.

Prevention

Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.

References

Jones KL, ed. Aase syndrome. In: Smith's Recognizable Patterns Of Human Malformation. 6th ed. Saunders. 2005.

Clinton C, Gazda HT. Diamond-Blackfan Anemia. 2009 Jun 25 [Updated 2013 Jul 25]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle, Wa: University of Washington, Seattle; 1993-2013. Accessed Sept. 8, 2013.

Vlachos A, Ball S, Dahl N, et. al. Diagnosing and treating Diamond Blackfan anemia: results of an international clinical consensus conference. Br J Haematol. September 2008: 142(6): 859–876. Accessed Sept. 8, 2013.


Review Date: 9/8/2013
Reviewed By: Chad Haldeman-Englert, MD, FACMG, 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, Bethanne Black, and the A.D.A.M. Editorial team.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com
 
A Member of Trinity Health
© 2014 Trinity Health

St. Joseph Mercy Ann Arbor | 5301 McAuley Drive, Ypsilanti, MI 48197 | 734-712-3456