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Fanconi Anemia

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to David Brouch, NORD Intern from the University of Notre Dame, and Blanche P Alter, MD, MPH, FAAP, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, for assistance in the preparation of this report.

Synonyms of Fanconi Anemia

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

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

Summary
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.

Introduction
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.

Organizations related to Fanconi Anemia

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