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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

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