Kleefstra syndrome

Kleefstra syndrome is a genetic condition that affects many parts of the body. The most common signs of Kleefstra syndrome include intellectual disability, delayed development, limited or absent speech, and low muscle tone.

Kleefstra syndrome is caused by DNA changes that affect the gene EHMT1. In some patients, these changes involve the loss of a small portion of DNA on chromosome 9 that includes EHMT1 and other genes. In other patients, the changes affect only the EHMT1 gene. EHMT1 controls how other genes are turned on or off. When the function of EHMT1 is altered or lost, a large number of other genes that control a child’s development are affected.

Treatment is aimed at easing symptoms of the condition. There is currently no targeted treatment or cure for Kleefstra syndrome.

The latest on our research

We are jumpstarting our Kleefstra syndrome program in partnership with the iDefine Foundation to accelerate research for the condition. We welcome all patients and caregivers interested in participating and spreading the word to the Kleefstra syndrome community.