Symptoms:

Person's with Fanconi's anemia have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot).

Not enough white blood cells can lead to infections. A lack of red blood cells may result in fatigue (anemia).

A lower-than-normal amount of platelets may lead to excess bleeding.

Most people with Fanconi's anemia have some of these symptoms:

• Abnormal heart, lungs, and digestive tract
• Bone problems (especially the hips, spine or ribs, can causes a curved spine (scoliosis)
• Changes in the color of the skin, such as:
  • Darkened areas of the skin called Cafe au lait spots
  • Vitiligo
• Deafness due to abnormal ears
• Eye or eyelid problems
• Kidney(s) that did not form correctly
• Problems with the arms and hands, such as:
  • Missing, extra or misshapen thumbs
  • Problems of the hands and the bone in the lower arm
  • Small or missing bone in the forearm
• Short height
• Small head
• Small testicles and genital changes

Other possible symptoms:

• Failure to thrive
• Learning disability
• Low birth weight
• Mental retardation

Signs and tests:

Common tests for Fanconi's anemia include:

• Bone marrow biopsy
• Complete blood count (CBC)
• Developmental tests
• Drugs added to a blood sample to check for damage to chromosomes
• Hand x-ray and other imaging studies (CT scan, MRI)
• Hearing test
• HLA tissue typing (to find matching bone-marrow donors)
• Ultrasound of the kidneys

Pregnant women may haveamniocentesis or chorionic villous sampling to diagnose the condition in their unborn child.