The TAR syndrome is characterised by a combination of a low number of blood platelets (thrombocytes) and the lack of a radius bone in the lower arm. The name TAR comes from the first letters in the words Thrombocytopenia (lack of thrombocytes), Absence, and Radius.
At birth the characteristic lack of the radius bone is apparent in the lower arms. This causes the lower arms to be very short, and often the hands are bent at an angle to the upper arms.
The children may also have other changes in the muscles and skeleton of the arms and hands, such as underdevelopment or changes in the other lower arm bone, the ulna, or changes or shortening of the upper arm bone. In about half of these children there are skeletal changes in the legs and feet. The knees can be malpositioned and the kneecaps can have an abnormal placement. Frequently the knee joints are unstable, which can cause bowleggedness or knock-knees. The hip joints may also be out (congenital hip dislocation).
The number of children with TAR syndrome is very low. Only one or two children with this syndrome are born per year in Sweden.
Source: National Swedish Board of Health and Welfare (translated).