Fanconi anemia history and symptoms
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Overview
The majority of patients with fanconi anemia present with congenital anomalies. 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.
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