- 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.
– 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.
Centralization of ulna