Fanconi anemia (FA) is a rare inherited bone marrow failure syndrome that over time leads to aplastic anemia. It occurs when there is a defect in one of several FA genes. 

Approximately 10 to 20 children are born with FA each year in the United States. Sometimes, FA may be suspected at birth by one or more of these physical traits:

  • Skin discolorations
  • Hand, arm and other skeletal anomalies
  • Kidney problems
  • Small head or eyes
  • Low birth weight
  • Gastrointestinal problems (bowel)
  • Small reproductive organs in males
  • Heart defects

Since these physical characteristics can be indicative of other conditions, and since some patients may have no obvious physical traits of FA, the condition may not be diagnosed at birth.

They may exhibit symptoms such as:

  • Unexplained fatigue
  • Recurrent colds or viral infections
  • Recurrent nosebleeds
  • Easy bruising
  • Blood in the stool or urine
  • Shortness of breath
  • Poor growth / short stature

In rare cases, symptoms do not occur until early adulthood.