National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Anemia, Fanconi 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.
- 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
- 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
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.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Fanconi Anemia Research Fund, Inc.
1801 Willamette St
Eugene, OR 97401
International Fanconi Anemia Registry
c/o Arleen Auerbach
1230 York Avenue
New York, NY 10021
NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
Canadian Fanconi Anemia Research Fund
PO Box 38157
Ontario, Intl M5N 3A9
NIH/National Heart, Lung and Blood Institute ~ Hematology Branch
10 Center Dr, Building 10-CRC
Bethesda, MD 20892-1202
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
PO Box 905
Hampshire, PO1 9JG
Tel: +44 (0) 845 271 2811
Fax: +44 (0) 1794 833433
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Last Updated: 4/6/2009
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