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Kleefstra Syndrome
Kleefstra Syndrome

An information page about a rare genetic syndrome

  • About the Syndrome
    • Care Instructions 2026
    • Frequently Asked Questions
    • Organizations and useful links
    • Specialized centers
      • Kleefstra Syndrome Clinic in America
      • European center for Kleefstra in the Netherlands
  • Our History
  • Research
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Kleefstra Syndrome
Kleefstra Syndrome

An information page about a rare genetic syndrome

Category: Our History

Our History

The Beginning – From pregnancy to 17 months.

Katerina Tzimourta,
August 28, 2013August 13, 2026

From the very beginning we believed that something was wrong and causing her slow growth, yet we hoped it was all in our imagination and that despite the generalized lethargy and lack of interest, at some point she would react to…

Our History

And the electroencephalogram was abnormal

Katerina Tzimourta,
September 10, 2013August 14, 2026

The response from the doctors was immediate, regardless of the fact that my exams were delayed a few days in being posted on the blog. The electroencephalogram was abnormal and showed that the spasms were epileptic, and we started treatment. Depakine syrup 200mg,…

Our History

Patience is a virtue

Katerina Tzimourta,
April 2, 2014August 18, 2026

Six months have passed since the last post. And has anything changed in these months? Hearing the word epilepsy scares one. The average person's mind goes to violent situations, where the child has no awareness...

Our History

And we became 3 years old!

Katerina Tzimourta,
March 8, 2015August 14, 2026

We may not speak, we may not walk, but we understand everything. Or almost everything. Our movement has not improved much, it cannot find the motivation to get up and stand on its feet...

Our History

And the thyroid?

Katerina Tzimourta,
October 8, 2015August 17, 2026

It’s a domino effect. Everything in our organization is a domino. One thing affects the other, and heaven knows if you even know what out of everything the absence of this specific gene affects. Or rather, it affects everything, but you don't...

Our History

29 days and something

Katerina Tzimourta,
May 10, 2016August 13, 2026

Muscle atonia is one of the main features of the syndrome. When someone hears this word, they imagine that a child with Kleefstra syndrome cannot raise their arm well, is a bit...

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