So much is still being learned about Kleefstra Syndrome. The first diagnosis was around 2010. At that time, there were very few cases, and limited information about the syndrome. Although it has been stated that there are only around 500 known cases in the world, current research suggests that this number could be grossly understated. Lack of genetic testing and misdiagnosis have contributed to the difficulties of a positive detection. With the power of knowledge regarding intellectual disabilities, coupled with a growing accessibility to genetic testing, we could see this number rise dramatically in the future.

In general, those with Kleefstra Syndrome require treatment with a specialized, multidisciplinary team of medical and therapeutic providers. Cardiac screenings, renal, and intestinal evaluations are recommended for the duration of life. Secondary complications can arise which may shorten the life span of a patient, making the prognosis somewhat variable. In most cases, it is not a life-threatening disease, and individuals can live a long, purposeful life.

Featured Partners