Conditions / Genetic

Fanconi anemia complementation group F

info ยท Genetic

A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15.

Signs and symptoms

  • Failure to thrive
  • Anemia
  • Cafe-au-lait spot
  • Hyperpigmentation of the skin
  • Bone marrow hypocellularity
  • Decreased total leukocyte count
  • Chromosomal breakage induced by crosslinking agents
  • Pneumonia
  • Thrombocytopenia
  • Short stature

Also known as: FANCF