TAR syndrome

Thrombocytopenia + Radial Aplasia syndrome or TAR syndrome is a rare disease characterized by congenital thrombocytopenia (decrease in circulating platelets, which are involved in blood clotting). present from birth) due to ineffective thrombopoiesis (the mechanism by which platelets are formed), skeletal malformations with anomalies of the extremities, especially bilateral absence of the radius, cardiac malformations and, frequently, lactose intolerance.

The Radial Aplasia Thrombocytopenia syndrome was first described by Shaw and Oliver in 1959, but it was not until 10 years later that the acronym by which it is known today, TAR, began to be used.

The estimated prevalence in Spain is approximately 0.42 per 100,000 live births (95% CI 0.15 - 0.91). The ratio of the sexes is 1:1 (some studies find a greater affectation in girls). Although the syndrome is considered to be autosomal recessive, genetic heterogeneity cannot be ruled out.