About Kleefstra Syndrome

Kleefstra Syndrome (KS) was named in 2010 for Dr. Tjitske Kleefstra who, along with her research team at Radboudumc Center of Expertise in Nijmegen, the Netherlands, identified the genetic cause of a set of characteristics in a so far unknown syndrome.

Dr. Tjitske Kleefstra

Dr. Kleefstra and her team had been working with the EHMT1 gene since 2002, honing in on this gene as the most likely cause for the cause of intellectual disabilities (ID) in patients with a consistent group of characteristics including distinctive facial features, low muscle tone, and Austistic-like behavior, among others.

Given the relatively recent discovery of the causative factor in the set of symptoms that are KS, there is still much to learn about how best to treat patients. To date, roughly 500 patients have been diagnosed with KS, and the process for obtaining a diagnosis can be difficult depending on the medical expertise available in a given area. However, with the power of an active and committed KS community of families, scientists and doctors pushing for continued research and, ultimately, a cure, this is changing.

Dr. Siddarth Srivastava

Dr. Kleefstra and her team at Radboudumc, along with U.S.-based KS expert Dr. Siddarth Srivastava and his team at Boston Children’s Hospital’s Translational Neuroscience Center, continue to study KS and possible treatments, including possible drug therapies. The scientific community sees KS as a gateway to understanding the mechanism behind other intellectual disabilities stemming from genetic causes, and there is much hope that what is learned to improve care and outcomes in the KS community will improve care for all ID patients.

While there is still much to learn and much work to do, exciting new avenues of research continue to open to help us better understand and manage Kleefstra Syndrome. Those diagnosed with KS can, in general, expect to lead a long and purposeful life.

Read more about Radboudumc’s ongoing Kleefstra Syndrome research efforts here.

Read more about Kleefstra Syndrome: