This definition was taken with permission from the Kleefstra Syndrome website:
“Kleefstra syndrome is a rare genetic condition in which a tiny piece is missing from near the end of one of the body’s 46 chromosomes. The missing piece includes a gene called EHMT1. Its absence is believed to cause the major symptoms of the syndrome.”
Generally, a person with Kleefstra syndrome will exhibit developmental delay, learning difficulty or disability and low muscle tone. Other common features of the syndrome are: heart conditions, seizures, sleep difficulties, behaviour difficulties, strabismus or other unusual eye features, and respiratory infections caused by aspiration reflux/GERD.
But really, these are all just generalizations and describe the complications of many genetic conditions. The truth is that we just don’t know how Kleefstra’s syndrome will bear out in any one individual because the syndrome is so impossibly rare. Remember, there are only 150 documented cases worldwide.
Because it is so rare there is no clear prognosis and no treatment protocol for Kleefstra Syndrome. This leaves someone diagnosed with no idea of what to expect for the future and no plan for making the most of the life he or she was given.
For a more in-depth look at the syndrome, visit kleefstrasyndrome.org
- Kleefstra Syndrome
- Institutes for the achievement of human potential
- Charitable Foundation of the Family