/thrombocytopenia-absent radius syndrome

thrombocytopenia-absent radius syndrome

Rare Disease

MONDO:0010121

Also Known As

1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndromeTAR syndromeThrombocytopenia Absent Radius Syndromeradial aplasia-thrombocytopenia syndromethrombocytopenia with absent radii (TAR) syndromethrombocytopenia-absent radius syndromeTARTar syndromeabsent radii and thrombocytopeniachromosome 1Q21.1 deletion syndrome, 200-Kbthrombocytopenia absent radiithrombocytopenia absent radius syndrome

Definition

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.