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    Aase syndrome

    Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome

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

    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:

    • Bone marrow biopsy
    • Complete blood count (CBC)
    • Echocardiogram
    • X-rays

    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.

    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.

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                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. 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.
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