Symptoms:
The lack of white blood cells can lead to infections. Not having enough of the cells in blood (platelets) that cause clotting may lead to excess bleeding. A lack of red blood cells may result in fatigue (anemia).
Most people with Fanconi's anemia have these types of symptoms:
- Skin pigment change (darkened areas of the skin, cafe-au-lait spots, vitiligo)
- Short height
- Upper limb problems (missing, extra or misshapen thumbs; small or missing radius bone in the forearm; problems of the hands and the forearm bone in the lower arm)
- Small testicles, genital changes
- Abnormal bones (abnormalities of the hip, spine or rib; curved spine (scoliosis); small head)
- Abnormal eye/eyelid
- Malformed kidney
- Abnormal ears/deafness
- Abnormal hip, leg, and toe
- Abnormal digestive tract/heart and lungs
Other possible symptoms:
- Mental retardation
- Learning disability
- Low birth weight
- Failure to thrive
Signs and tests:
Common tests for Fanconi's anemia include:
