Fanconi's anemia

Alternative Names:

Anemia - Fanconi's; FA
Symptoms:

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:

Signs and tests:

Common tests performed inevaluating Fanconi's anemia include:

CBC (complete blood count) initially demonstrates low platelets (thrombocytopenia), then low neutrophils (a type of white blood cell), and finally low hemoglobin (anemia), which develops over months to years.
Bone marrow biopsy.
Clastogenic stress-induced chromosomal breakage analysis on blood cells of patients and their siblings to diagnose the disease.In this test, drugs are added to a blood sample to check for abnormal damage to chromosomes.
HLA tissue typing on the patient and their family members to determine if any are matching bone-marrow donors.
Hand x-ray, and other imaging studies (x-ray, CT scan, MRI) to evaluate any anomalies.
Hearing test.
Developmental tests.
Ultrasound of the kidneys.
Amniocentesis or chorionic villous sampling has been used for prenatal diagnosis.