Fanconi anaemia

external

• Causes

  • Ubiquitin mutation
  • FANCA gene mutation

• Effects

  • Aplastic anaemia
  • Absent radii
  • Acute myeloid leukaemia
  • Acute monomyelocytic leukaemia
  • Congenital deafness
  • Short stature
  • Microstomia
  • Microcephaly
  • Mental retardation
  • Hypogonadism
  • Horseshoe kidney
  • Generalised hyperpigmentation

• Parents

  • Autosomal recessive disorder
  • Congenital haematological disorder
  • Disease due to genetic mutation

• Description

  • "Rare autosomal recessive bone marrow hypofunction. Pancytopenia develops age 5"