GTR Home > Conditions/Phenotypes > Fanconi anemia, complementation group O

Disease characteristics

Excerpted from the GeneReview: Fanconi Anemia
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk of malignancy. Physical abnormalities, present in 60%-75% of affected individuals, include one or more of the following: short stature; abnormal skin pigmentation; malformations of the thumbs, forearms, skeletal system, eyes, kidneys and urinary tract, ears (and decreased hearing), heart, gastrointestinal system, central nervous system; hypogonadism; and developmental delay. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. By age 40 to 50 years, the estimated cumulative incidence of bone marrow failure is 90%; the incidence of hematologic malignancies (primarily acute myeloid leukemia) 10%-30%; and of nonhematologic malignancies (solid tumors, particularly of the head and neck, skin, GI tract, and genital tract) 25%-30%.

Associated genes

Clinical features

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  • Absent thumb
  • Short stature
  • Cryptorchidism
  • Hydronephrosis
  • Anal atresia
  • Malformation of the heart and great vessels
  • Hypoplasia of the radius
  • External genital hypoplasia
  • Stage 5 chronic kidney disease
  • Short thumb
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