Thrombocytopenia + Radial Aplasia syndrome, or SAR syndrome, is a rare disease characterized by thrombocytopenia (a decrease in circulating platelets, involved in blood clotting), congenital (which is present from birth) by thrombopoiesis (mechanism by which platelets are formed), skeletal malformations with abnormalities of the extremities, especially bilateral absence of the radius, cardiac malformations and, frequently, lactose intolerance.
Syndrome of Thrombocytopenia Radial Aplasia was first described by Shaw and Oliver in 1959, but it was not until 10 years later when the acronym with which it is now known, TAR.
The estimated prevalence in Spain is approximately 0.42 per 100 000 live births, (I.C.95% 0.15 - 0.91). The proportion of the sexes is 1: 1 (some jobs find a greater affectation in girls). Although the syndrome is considered to be autosomal recessive, genetic heterogeneity can not be ruled out. Sources
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