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Fanconi Anemia

National Organization for Rare Disorders, Inc.

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.

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