Conditions / Genetic

Fanconi anemia complementation group C

info · Genetic

A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22.

Signs and symptoms

  • Epicanthus
  • Hypopigmented macule
  • Flexion contracture
  • Ventricular septal defect
  • Cafe-au-lait spot
  • Anemia
  • Hyperpigmentation of the skin
  • Bone marrow hypocellularity
  • Chromosomal breakage induced by crosslinking agents
  • Anterior wedging of T12

Also known as: FA3; FACC; FANCC; Fanconi pancytopenia type 3