About this condition

Koolen-de Vries syndrome due to a point mutation

This is information, not medical advice. A doctor or genetic counsellor is the right person for decisions.

What this means, in plain words

Koolen-de Vries syndrome due to a point mutation is a rare condition linked to the KANSL1 gene.

No two people with this condition are the same, and not everything on this page will apply to everyone.

You are not alone

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People you can contact

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Things you can do this week

Write down your questions and take them to your next appointment (ours are below).

Questions to bring to your doctor

Has a gene change been found, and is it the kind usually seen in Koolen-de Vries syndrome due to a point mutation?
Is there a treatment for this condition, or a study we could join?
Should we see a genetic counsellor about what this means for the rest of the family?

Questions for our appointment

About: Koolen-de Vries syndrome due to a point mutation

Has a gene change been found, and is it the kind usually seen in Koolen-de Vries syndrome due to a point mutation?
Is there a treatment for this condition, or a study we could join?
Should we see a genetic counsellor about what this means for the rest of the family?

This is information, not medical advice. Prepared with Phenotech, a rare-disease atlas. Sources: Orphanet (https://www.orpha.net/en/disease/detail/363965); ClinicalTrials.gov (https://clinicaltrials.gov/search?cond=Koolen-de%20Vries%20syndrome%20due%20to%20a%20point%20mutation&aggFilters=status:rec%20not).

Studies looking for participants

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