Fanconi's anaemia

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Fanconi's anaemia (Fanconi anaemia, FA) is a rare genetic disease due to faults in DNA repair enzymes, resulting in impaired response to DNA damage. The phenotype is usually characterised by:

  • Development of:
  • Congenital abnormalities in about 70% (note this means 30% appear normal)
    • abnormal thumbs
    • absent radii
    • short stature
    • skin hyperpigmentation, including cafĂ© au lait spots
    • abnormal facial features (triangular face, microcephaly)
    • abnormal kidneys
    • decreased fertility

The genes implicated include: