Definition:
TAR Syndrome (Thrombocytopenia with Absent radius) is a rare genetic disorder which is marked by the absence of the radius bone in the forearm, and a dramatically reduced platelet count. Symptoms of thrombocytopenia, or a lowered platelet count, results to bruising and potentially life-threatening haemorrhage.
Diagnosis:
Characteristic skeletal involvement is detectable during prenatal transvaginal ultrasonography as early as 13 weeks' gestation, when sufficient fetal skeletal ossification is present. Upper-limb abnormalities on prenatal sonograms suggest several syndromes in the differential diagnosis. After radial aplasia is seen, ultrasonography of the extremities, face, and kidneys is indicated.
Treatment:
Treatments vary from platelet transfusions through to surgery aimed at 'normalizing' the appearance of the arm, which is much shorter and 'clubbed.' The infant mortality rate has been curbed by new technology, including platelet transfusions, which can even be done in utero. The crucial period is the first year of life. For most people with TAR, platelet counts improve as they grow out of their childhood.
Causes:
The cause of TAR syndrome is not known.
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