TAR syndrome
Definition
Thrombocytopenia-absent radius (TAR) syndrome is a rare condition that is apparent at birth. Affected infants are born with incomplete or missing forearms. Typically, the bone on the thumb side of the forearm (radius) is absent, but other bones may be missing or abnormally formed. TAR syndrome also causes life-threatening bleeding episodes due to low levels of platelets in the blood (thrombocytopenia). It is inherited in an autosomal recessive manner.
Description
Dr. S. Shaw first wrote about two siblings (a brother and a sister) with missing forearms and bleeding problems in 1956. Thirteen years later, Dr. Judith Hall gave the name and acronym of TAR syndrome to the disorder. She described three families containing nine individuals. TAR syndrome has also been called the...
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