Fanconi anemia

Dr Daniel J Bell and Radswiki et al.

Fanconi anemia is a rare disorder characterized by progressive bone marrow failure, various congenital abnormalities, and predisposition to malignancies (often acute myeloid leukemia). It is considered the commonest type of inherited marrow failure syndrome 7

Fanconi anemia should not to be confused with Fanconi syndrome which is a renal disease. 

The estimated incidence is ~1:35,000 births. There may be a higher frequency in Ashkenazi Jews and Afrikaners in South Africa. There might also be a slight male predilection. 

It is mostly transmitted by autosomal recessive inheritance (>99%).

There are at least 13 genetic subtypes described:

  • type a
  • type b
  • type c
  • type d1
  • type d2
  • type e
  • type f
  • type g
  • type i 
  • type j 
  • type l
  • type m
  • type n

Although non-specific, commonly described features include:

The main cause of mortality is from marrow failure. 

First described by a Swiss pediatrician, Guido Fanconi (1892-1979), in 1927 8,9.

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Article information

rID: 13077
Tag: eponym
Synonyms or Alternate Spellings:
  • Fanconi's anaemia
  • Fanconi anemia
  • Fanconi's anemia
  • Fanconi anaemia (FA)
  • Pancytopenia-dysmelia syndrome

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