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, also known as aplastic anemia with congenital anomalies, is a rare genetic disorder that may be apparent at birth or during childhood. In some cases, Fanconi anemia might not be diagnosed until adulthood. It is an inherited predisposition to gene mutations, probably because of a poor ability to repair chromosome damage (chromosome instability). It predisposes to damage to stem cells and eventually to leukemic transformation. The disorder is characterized by a deficiency of all bone marrow elements including red blood cells, white blood cells, and platelets (pancytopenia). Fanconi anemia may also be associated with heart (cardiac), kidney (renal), and/or skeletal abnormalities. It is commonly accompanied by patchy, brown discolorations (pigmentation changes) of the skin. There are several different subtypes (complementation groups) of Fanconi anemia, each of which is thought to result from an abnormal change (mutation) to a different gene. Each subtype appears to share the same characteristic symptoms and findings (phenotype). Most cases of Fanconi anemia have autosomal recessive inheritance. Fanconi anemia is not related in any way to Fanconi syndrome, a rare kidney disorder.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
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: 5416874658
Fax: 5416870548
Tel: 8008284891
Email: info@fanconi.org
Internet: http://www.fanconi.org/

International Fanconi Anemia Registry
c/o Arleen Auerbach, PhD
Rockefeller University
1230 York Avenue, Box 77
New York, NY 10021
Tel: (212)327-8862
Fax: (212)327-8262
Email: auerbac@mail.rockefeller.edu
Internet: http://www.rockefeller.edu/labheads/auerbach/auerbach.html

NIH/National Heart, Lung and Blood Institute
31 Center Drive MSC 2480
Building 31A Rm 4A16
Bethesda, MD 20892-2480
Tel: (301)592-8573
Fax: (240)629-3246
Email: nhlbiinfo@rover.nhlbi.nih.gov
Internet: http://www.nhlbi.nih.gov/

Canadian Fanconi Anemia Research Fund
PO Box 38157
Castlewood Postal Outlet
Toronto
Ontario, Intl M5N 3A9
Canada
Tel: 416-489-6393
Fax: 416-489-6393
Email: admin@fanconicanada.org
Internet: http://www.fanconicanada.org

NIH/Hematology Branch, National Heart, Lung and Blood Institute (NHLBI)

Tel: (301)402-0764
Fax: (301)402-3088
Email: zamaniw@nhlbi.nih.gov
Internet: http://www.nhlbi.nih.gov/nhlbi/seekpat/hematol.htm

Fanconi Anaemia Co UK
23 Hardy Close
Barnet
hertfordshire, Intl EN5 2FA
United Kingdom
Tel: 02084499378
Email: roberto@fanconi-anaemia.co.uk
Internet: http://www.fanconi-anaemia.co.uk

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: 9203365333
Fax: 9203390995
Tel: 8773365333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Let Them Hear Foundation
1900 University Ave #101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3143
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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:  4/6/2007
Copyright  1986, 2989, 1991, 1992, 1993, 1994, 1996, 1997, 1998, 1999, 2006, 2007National Organization for Rare Disorders, Inc.