Definition of Syndrome, TAR
Syndrome, TAR: TAR stands for Thrombocytopenia (low
blood platelets) and Aplasia (absence) of the Radius (the long bone on the thumb-side of
the forearm), features characterizing this syndrome. There is phocomelia
(flipper-limb) with the thumbs always present. The fibula (the smaller bone in the lower
leg) is often absent. The risk of bleeding from too few platelets is high in early infancy
but lessens with age. The condition is inherited in an autosomal recessive trait with one
gene (on a non-sex chromosome) coming from each parent to the TAR child. Alternative names
include thrombocytopenia-absent radius syndrome, radial aplasia-thrombocytopenia
syndrome, and tetraphocomelia-thrombocytopenia syndrome.
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