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TAR syndrome

Background

TAR syndrome: Thrombocytopenia and Absent Radius

Thrombocytopenia means low platelets. The thrombocytes are the platelets and 'penia' means 'not very much of.'

In Thrombocytopenia and Absent Radius there are low platelets and absence of the radius on both sides (bilaterally). The radius and the ulna are the two bones in the forearm. The radius is the bone that is on the side of the forearm where the thumb is and the ulna is on the side of the arm where the little finger is. There may be other bones involved as well but the unique feature of Thrombocytopenia and Absent Radius is that although the radius is absent, the thumb is present. Most other limb anomalies that involve the radius also affect the thumb.

There are a number of other disorders that involve elements of the blood and abnormal structure of bones of the arm and it is important to realise that TAR is a very specific condition. TAR is considered a congenital abnormality since the bone structure is abnormal at birth. TAR has an ongoing problem since during childhood most affected individuals continue to have low platelets. Viral illnesses and other kinds of stress can cause the platelets to become very low and even require platelet transfusions.

What are the symptoms? View What are the symptoms?

Medical text abridged July 2001 by Contact a Family from a paper by Professor J Hall. Last updated December 2005 by Professor J Hall, Professor Emerita of Pediatrics and Medical Genetics, Department of Pediatrics, British Columbia Children's Hospital, Vancouver, Canada.

 

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