Newly Diagnosed?
If you’re here because your child or loved one has just received a Kleefstra syndrome (KS) diagnosis, please know this: you are not alone. We understand how overwhelming, emotional, and confusing this moment can feel—and we want you to take a deep breath. You’ve found a community that not only shares your journey, but walks it together with compassion, information, and hope.
Welcome to your Family by Fate.
What is Kleefstra syndrome (KS)?
Kleefstra syndrome (KS) is a rare genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. The syndrome, eponymously named for Dr. Tjitske Kleefstra, is caused by either a mutation or deletion of a gene called EHMT1 (Euchromatic Histone Methyltransferase 1). The impact leads to the loss of the entire gene.
Kleefstra Syndrome presents with a wide range of symptoms, and the severity of those symptoms vary from mild to severe.
Join the IDefine + Kleefstra Syndrome Community on Social Media
Wherever you are in your journey, connect, share, and learn through our social platforms below.
You Belong Here. Get Engaged with the Community.
Whether your journey has just begun or you’re still searching for answers, IDefine is here to walk with you. We believe that empowered families drive progress—and we’re committed to providing support, advocacy, and the resources you need every step of the way.
If you have questions or need help getting started, please don’t hesitate to contact us directly. We’re here for you.
Kleefstra Clinic at the Rosamund Stone Zander Translational Neuroscience Center
Resources
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Kleefstra Syndrome Facebook Pages
We are a global community! There are support groups set up as private, closed groups on Facebook for various regions around the world.
- Kleefstra Syndrome Public Facebook Page
- Kleefstra Syndrome; 9q Deletions Private Facebook Page
- Kleefstra Syndrome - Chromosome Mutation Private Facebook Page
- Kleefstra Syndrome All Grown Up Private Facebook Page
- Australia Kleefstra Syndrome Private Facebook Group
- Belgium Kleefstra Syndrome Private Facebook Group
- Brazil Kleefstra Syndrome Private Facebook Group
- France Kleefstra Syndrome Private Facebook Group
- New Zealand Kleefstra Syndrome Private Facebook Group
- UK Kleefstra Syndrome Private Facebook Group
Global Genes
Global Genes is a global non-profit advocacy organization for individuals and families fighting rare and genetic diseases.
National Organization for Rare Diseases (NORD)
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