The Discovery & Mystery of TAR Syndrome

By Nakiya Barts | May 18, 2024

Decades ago, a rare anomaly called TAR Syndrome was discovered, but . . . what exactly is it? TAR Syndrome is formally known as thrombocytopenia absent-radii syndrome, meaning that the person was born without wrist bones. 

I was diagnosed with the condition at one-years-old and was bullied for it in elementary school. Other kids would ask me, “Why do your hands look like that?” and I didn’t know how to respond because I didn’t have the answer myself. I thought I was simply born with it and didn’t question it, but there was more to my hands than either my mom or I knew about.

That was until I had the opportunity to research the condition for a history project last year.

Back in the late 1920s, Harry M. Greenwald and Irving Sherman discovered TAR Syndrome when a boy was born with it in December 1928 after a few cases were shown. The two worked at United Zion Hospital in Brooklyn, New York, and one of their colleagues, Rushmore, reported six cases of thrombocytopenia,  according to the summary of an article on JAMA network, an open-access medical journal published by the American Medical Association. 

Two other colleagues, Karl Waltner and Phillip Liebling, found two more patients with thrombocytopenia. Waltner’s case concluded that the baby had TAR Syndrome while the baby was still in the womb, and Liebling’s case explained a premature baby whose mother had shown signs of TAR syndrome since teenhood. Sherman and Greenwald also found changes in a TAR Syndrome baby’s blood cells, and the baby died at fourteen years of age. 

However, not everyone shows direct signs of TAR Syndrome.

To illustrate, T.J. (born Nov. 1970) was born premature at 2,480 g with a low blood platelet count and absent radius, along with other notable features. She had a low nose, ears, and hairline, and she had clinodactyly in both pinkies, which means they’re curved. Finger and hand prints suggest that the gene was affected by her sister, mother, grandparents, and the mother’s siblings, according to an article on a digital library of academic journals, JSTOR, which describes the first few cases of TAR Syndrome after its discovery. 

Even though no signs of TAR were present in the mother or siblings, the mother’s cousin had two out of four kids with TAR. K.S. (born Jan. 1961) was only born with absent radii and didn’t show any other physical anomalies, but J.S. (born June 1964) had trouble with breastfeeding and died at 3 months old from severe internal and external bleeding. However, what’s interesting is that two of their aunts had clinodactyly, and their second cousins and parents seem to have been affected by the syndrome, but none of the other family members had any anomalies. In the end, K.S. stayed alive and continued living after the age of 15. Therefore, people with TAR Syndrome can endure severe or mild effects of the condition, depending on the lack of blood tissue.

Due to these studies, there is no consistent pattern of inheritance for TAR Syndrome because it is mostly an autosomal recessive inheritance. That means that it is likely that parents of the child with TAR will not have it, so the child most likely inherited the gene from a distant relative. 

Today, I know a lot more about TAR Syndrome than I did when I was a kid. By learning more about my condition, it gave me more clarity of my limb abnormality while sympathizing with others with severe TAR Syndrome conditions. With organizations, such as the TAR Syndrome Association, and TAR Syndrome Awareness Month is in April, but you can learn about other people’s experiences with TAR all year round and donate to the cause to help others get the resources they need.

For more information and facts about TAR Syndrome, please view the following PowerPoint: