Thrombocytopenia Absent Radius Syndrome

Important
It is feasible that the primary title of the report Thrombocytopenia Missing Radius Syndrome is not the name you anticipated. Please examine the basic synonyms noting to discover the alternate name(s) and also problem subdivision(s) covered by this record.

Words

  • thrombocytopenia-absent radii syndrome
  • TAR disorder
  • radial aplasia-thrombocytopenia syndrome
  • radial aplasia-amegakaryocytic thrombocytopenia

Condition Class

  • tetraphocomelia-thrombocytopenia disorder

General Discussion
Thrombocytopenia-absent radius (TAR) disorder is an unusual disorder that is present at birth (genetic). It is identified by low degrees of platelets in the blood (thrombocytopenia) as well as absence (aplasia) of the lengthy, slim bones of the lower arms (spans). Other irregularities are frequently present consisting of additional skeletal problems such as lack or underdevelopment of the rest bone of the lower arm (ulna), structural malformations of the heart (genetic heart defects), as well as kidney (kidney) problems. Influenced people could be uncommonly brief for their age (brief stature) as well as exhibit cow’s milk intolerance. TAR syndrome is inherited as an autosomal recessive congenital disease and dued to deletion and/or anomalies in the RBM8A gene.

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