Aase syndromeAase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome
Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.
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.
- 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 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.
The anemia tends to improve with age.
Complications related to anemia include:
- Decreased oxygen in the blood
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.
Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.
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.