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    Fanconi Anemia

    Important
    It is possible that the main title of the report Fanconi Anemia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • Fanconi's Anemia, Type I (FA1)
    • Fanconi Pancytopenia
    • Fanconi's Anemia, Estren-Dameshek Variant
    • Aplastic Anemia with Congenital Anomalies
    • Congenital Pancytopenia
    • Constitutional Aplastic Anemia
    • Fanconi Panmyelopathy

    Disorder Subdivisions

    • Fanconi's Anemia, Complementation Group A (FANCA); FAA
    • Fanconi's Anemia, Complementation Group B (FANCB); FACB
    • Fanconi's Anemia, Complementation Group C (FANCC); FAC
    • Fanconi's Anemia, Complementation Group D (FANCD); FACD
    • Fanconi's Anemia, Complementation Group E (FANCE); FACE
    • Fanconi's Anemia, Complementation Group F (FANF); FACF
    • Fanconi's Anemia, Complementation Group G (FANG); FACG
    • Fanconi's Anemia, Complementation Group H (FANH); FACH

    General Discussion

    Fanconi anemia (FA) is a rare genetic disorder, in the category of inherited bone marrow failure syndromes. Half the patients are diagnosed prior to age 10, while about 10 % are diagnosed as adults. Early diagnoses are facilitated in patients with birth defects, such as small size, abnormal thumbs and/or radial bones, skin pigmentation, small heads, small eyes, abnormal kidney structures, and cardiac and skeletal anomalies. The disorder is often associated with a progressive deficiency of all bone marrow production of blood cells, red blood cells, white blood cells, and platelets. Affected individuals have an increased risk of developing a cancer of blood-forming cells in the bone marrow called acute myeloid leukemia (AML), or tumors of the head, neck, skin, gastrointestinal system, or genital tract. FA occurs equally in males and females, and is found in all ethnic groups. It is usually inherited as an autosomal recessive genetic disorder, but X-linked inheritance has also been reported.

    There are several subtypes of FA that result from the inheritance of two gene mutations in each of 15 different genes. Most of the subtypes share the characteristic symptoms and findings.

    FA is not related to the same as Fanconi syndrome, a rare kidney functional disorder.

    Resources

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.com

    Fanconi Anemia Research Fund, Inc.
    1801 Willamette St
    Suite 200
    Eugene, OR 97401
    USA
    Tel: (541)687-4658
    Fax: (541)687-0548
    Tel: (800)828-4891
    Email: info@fanconi.org
    Internet: http://www.fanconi.org/

    International Fanconi Anemia Registry
    Rockefeller University
    c/o Arleen Auerbach Ph.D.
    1230 York Avenue
    New York, NY 10021
    Tel: (212)327-8000
    Fax: (212)327-7974
    Email: pubinfo@rockefeller.edu
    Internet: http://lab.rockefeller.edu/smogorzewska/ifar/

    NIH/National Heart, Lung and Blood Institute
    P.O. Box 30105
    Bethesda, MD 20892-0105
    Tel: (301)592-8573
    Fax: (301)251-1223
    Email: nhlbiinfo@rover.nhlbi.nih.gov
    Internet: http://www.nhlbi.nih.gov/

    Canadian Fanconi Anemia Research Fund
    PO Box 38157
    Toronto
    Ontario, M5N 3A9
    Canada
    Tel: 4164896393
    Fax: 4164896393
    Email: admin@fanconicanada.org
    Internet: http://www.fanconicanada.org

    NIH/National Heart, Lung and Blood Institute ~ Hematology Branch
    10 Center Dr, Building 10-CRC
    3-5140, MSC-1202
    Bethesda, MD 20892-1202
    Tel: (301)496-5093
    Fax: (301)496-8396
    Tel: (800)644-2337
    Email: YoungNS@mail.nih.gov
    Internet: http://dir.nhlbi.nih.gov/labs/hb/index.asp?

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    Let Them Hear Foundation
    1900 University Avenue, Suite 101
    East Palo Alto, CA 94303
    Tel: (650)462-3174
    Fax: (650)462-3144
    Email: info@letthemhear.org
    Internet: http://www.letthemhear.org

    Fanconi Hope
    PO Box 905
    Southsea
    Hants, PO1 9JG
    United Kingdom
    Tel: 4408452712811
    Email: info@fanconihope.org
    Internet: http://www.fanconihope.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 1/14/2013
    Copyright 1986, 2989, 1991, 1992, 1993, 1994, 1996, 1997, 1998, 1999, 2006, 2007, 2009, 2013 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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