Thrombocytopenia-absent radius syndrome

TAR syndrome

  • Radial anomalies, presence of thumbs, and congenital or early-onset thrombocytopenia.
  • The syndrome was originally believed to be autosomal recessive with variable penetrance, but inheritance patterns appear to be more complex
  • Thumbs are present, which distinguishes TAR from similar syndromes.
  • Megakaryocytes are absent or immature on bone marrow examination. They are insensitive to thrombopoietin.
  • Platelet levels typically improve over the first year of life and may approach normal adult levels.
  • Associated with lower limb, renal & cardiac anomalies.
  • Management
    – Platelet transfusion only during episodes of bleeding
    – Orthopedic procedures are often necessary, including centralization of the hand to improve function and straightening of the lower extremities to correct varus deformities.

radial-club-hand-75-728.jpg

Centralization of ulna

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