tar syndrome group 6
TRANSCRIPT
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)
