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Thrombocytopenia Absent Radius Syndrome

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Zachary Weber, NORD Editorial Intern from the University of Notre Dame, and Helga V. Toriello, PhD, Director, Clinical Genetics, Michigan State University, for assistance in the preparation of this report.

Synonyms of Thrombocytopenia Absent Radius Syndrome

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

Disorder Subdivisions

  • tetraphocomelia-thrombocytopenia syndrome

General Discussion

Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood (thrombocytopenia) and absence (aplasia) of the long, thin bones of the forearms (radii). Other abnormalities are often present including additional skeletal defects such as absence or underdevelopment of the other bone of the forearm (ulna), structural malformations of the heart (congenital heart defects), and kidney (renal) defects. Affected individuals may be abnormally short for their age (short stature) and exhibit cow's milk intolerance. TAR syndrome is inherited as an autosomal recessive genetic disorder and caused by deletion and/or mutations in the RBM8A gene.

Thrombocytopenia Absent Radius Syndrome Resources

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