Conditions / Genetic

Fanconi anemia complementation group D2

info · Genetic

A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.

Signs and symptoms

  • Bone marrow hypocellularity
  • Microcephaly
  • Small for gestational age
  • Abnormal skin pigmentation
  • Microphthalmia
  • Short stature
  • Duplicated collecting system
  • Complete duplication of thumb phalanx
  • Reticulocytopenia
  • Anemic pallor

Also known as: FA4; FAD2; FANCD2; Fanconi pancytopenia type 4