Fanconi's Anemia

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Fanconi's Anemia Symptoms & Signs

This set of physical abnormalities occur in 80% of the cases:

• Skin pigment change -- darkened areas of the skin, cafe-au-lait spots, vitiligo
• Short stature
• Upper limb anomalies -- missing, extra or misshapen thumbs; underdeveloped or absent radius bone in the forearm; anomalies of the hands; abnormalities of the ulna
• Small testicles, genital changes
• Other skeletal anomalies -- congenital hip abnormality, scoliosis, spinal or rib malformations, small head
• Eye/eyelid anomalies
• Kidney malformations
• Ear anomalies/deafness
• Hip, leg, and toe abnormalities
• Gastrointestinal/cardiopulmonary malformations

Other potential symptoms:

• Mental retardation
• Learning disability
• Low birth weight
• Failure to thrive
• An affected sibling