tar syndrome group 6

TAR SYNDROMEThrombocytopenia-absent radius syndrome

TAR syndromeo Thrombocytopenia-absent

radius (TAR) syndromeo most likely an autosomal

recessive disordero affects both males and

females equallyo It is a rare disorder

estimated that one in every 250,000 infants are born with TAR syndrome

TAR syndrome

o characterized by the absence of a bone called the radius in each forearm

o reduction in the number of blood cells involved in clotting platelets

o characterized by very low levels of platelet-producing cells, called hypomegakaryocytic thrombocytopenia

Etiology

oBlood conditionsoGenetic conditions

Symptomso a lowered platelet count,

leads to bruising and potentially life-threatening hemorrhage

o Other common links :• heart problems• kidney problems• knee joint problems• frequently lactose intolerance• thumb hypoplasia

Diagnosiso uses x rays of the bones, and

by testing for low platelet levels in the blood at birth

o  pregnancy by using ultrasound (sound waves) at around 16-20 weeks of pregnancy, the shortening of the arms can be seen

TreatmentoPreventing hemorrhaging

episodes during the first year of life and rapidly resolving any that do occur

o Frequent platelet transfusions may be provided to maintain sufficient platelet counts.

oBabies with kidney problems may benefit from dialysis.

oThe baby also may benefit from splinting of the hands to improve function.

oOnce the child has stable platelet counts, surgery may be able to correct arm deformities.

Absence of the radius bone (that found in the forearm) is a primary indication of TAR syndrome. This infant is missing both radius bones resuling in shortened arms. The bruising on the body results from thrombocytopenia, low blood platelet count, which impairs the blood clotting process. (Greenwood Genetic Center)