II. Epidemiology

  1. Incidence: 1 in 60,000 to 300,000 births
  2. Diagnosis often not identified until age 2-7 years
  3. Higher Prevalence in Ashkenazi Jews (Carriers: 1 in 89)

III. Pathophysiology

IV. Signs

  1. Patchy brown Hyperpigmentation
  2. Cafe Au Lait spots
  3. Short Stature
  4. Microcephaly
  5. Hypogonadism
  6. Strabismus
  7. Renal hypoplasia
  8. Microphthalmia
  9. Mental Retardation
  10. Extra-digits or absence of digits
  11. Purpura

V. Labs

  1. Complete Blood Count
    1. Pancytopenia
  2. Chromosomal Breakage with exposure to deiepoxybutane

VI. Management

  1. Corticosteroids
  2. Maintenance androgen therapy

VII. Complications

  1. Malignancy (esp. Acute Myelogenous Leukemia)
  2. Bone Marrow Failure (often by 7 years of age)

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Ontology: Fanconi Anemia (C0015625)

Definition (NCI) An autosomal recessive genetic disorder characterized by bone marrow failure, skeletal abnormalities, and an increase incidence of development of neoplasias.
Definition (NCI_NCI-GLOSS) A rare inherited disorder in which the bone marrow does not make blood cells. It is usually diagnosed in children between 2 and 15 years old. Symptoms include frequent infections, easy bleeding, and extreme tiredness. People with Fanconi anemia may have a small skeleton and brown spots on the skin. They also have an increased risk of developing certain types of cancer.
Definition (MSH) Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
Concepts Disease or Syndrome (T047)
MSH D005199
ICD10 D61.09
SnomedCT 30575002
English Anemia, Fanconi, Fanconi's Anemia, Anemia, Fanconi's, Fanconi's familial refr.anaem., Primary Erythroid Hypoplasia, Pancytopenia, Congenital, Panmyelopathy, Fanconi, Fanconi's anemia (diagnosis), Fanconi Anemia, Fanconi anemia, Fanconi Anemia [Disease/Finding], fanconi syndrome, congenital pancytopenia, fanconi's anemia, anemia fanconi's, congenital aplastic anemia, fanconi's anaemia, anemia fanconi, fanconi anemia, fanconi anemias, fanconis syndrome, anemia fanconis, constitutional aplastic anemia, Anemias, Fanconi, Fanconi Anemias, Fanconi Pancytopenia, Fanconi Hypoplastic Anemia, Fanconi Panmyelopathy, Fanconi's anemia, Fanconi pancytopenia syndrome, Fanconi's anaemia, Fanconi's familial refractory anaemia, Fanconi's familial refractory anemia, Fanconi's hypoplastic anaemia, Fanconi's hypoplastic anemia, Fanconi's anemia (disorder), Fanconi; anemia, congenital; pancytopenia, pancytopenia; congenital, anemia; Fanconi, FA
German Fanconi-Anaemie, Anämie, Fanconi-, Fanconi-Anämie
Swedish Fanconis anemi
Japanese ファンコニヒンケツ, 貧血-ファンコニー, ファンコニ型再生不良性貧血, ファンコニ貧血, ファンコーニ貧血, ファンコニー貧血, Fanconi貧血, 貧血-Fanconi
Czech Fanconiho anémie
Finnish Fanconin anemia
Russian FANKONI ANEMIIA, ANEMIIA FANKONI, АНЕМИЯ ФАНКОНИ, ФАНКОНИ АНЕМИЯ
Polish Niedokrwistość Fanconiego
Hungarian Fanconi anaemia, Fanconi vérszegénység
Norwegian Fanconis anemi
Dutch Fanconi; anemie, anemie; Fanconi, congenitaal; pancytopenie, pancytopenie; congenitaal, Anemie, Fanconi-, Constitutionele aplastische anemie, Fanconi-anemie
Spanish anemia de Fanconi, síndrome de pancitopenia de Fanconi (trastorno), síndrome de pancitopenia de Fanconi, Anemia de Fanconi
French Anémie de Fanconi, Pancytopénie de Fanconi
Italian Anemia di Fanconi
Portuguese Anemia de Fanconi