TAR syndrome

(redirected from Thrombocytopenia absent radius)

throm·bo·cy·to·pe·ni·a-ab·sent ra·di·us syn·drome

, TAR syndrome [MIM*274000]
congenital absence of the radius associated with thrombocytopenia that is symptomatic in infancy but later improves; congenital heart disease and renal anomalies occur in some cases; autosomal recessive inheritance.

throm·bo·cy·to·pe·ni·a-ab·sent ra·di·us syn·drome

, TAR syndrome [MIM*274000]
congenital absence of the radius associated with thrombocytopenia that is symptomatic in infancy but later improves; congenital heart disease and renal anomalies occur in some cases; autosomal recessive inheritance.

TAR syndrome

TAR syndrome

Trombocytopenia-absent radius syndrome An AR condition of perinatal onset characterized by Thrombocytopenia with Absent Radius–thumbs are almost always present Clinical Profound thrombocytopenia, purpura with amegakaryocytosis in BM and bilateral aplasia of the radii, phocomelia, the fibula is often absent; up to23 of Pts have leukemoid reactions, occasionally anemia, eosinophilia, cardiovascular disease–eg, ASD, Fallot's tetralogy, cutaneous and renal anomalies Prognosis 50% die in the 1st yr of life due to intracranial hemorrhage. See Thrombocytopenia.
References in periodicals archive ?
Differential diagnosis of these skeletal abnormalities includes thrombocytopenia absent radius syndrome, Roberts syndrome, thalidomide embryopathy, Fanconi anaemia and Edward syndrome.
Thrombocytopenia absent radius (TAR) syndrome is a rare genetic anomaly presenting with bilateral radial aplasia and thrombocytopenia.
Keywords: Thrombocytopenia absent radius, thrombocytopenia, radius, neonate, preterm
Thrombocytopenia absent radius (TAR) syndrome is a rare genetic condition, characterized by bilateral absence of the radii while both thumbs are present, and thrombocytopenia.
There are reported cases of complete absence of the medial meniscus as described in thrombocytopenia absent radius syndrome (TAR syndrome).
Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis.