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Those children dream about carefree childhood.
The PACS2 syndrome impacts their journey towards an independent life.
There is HOPE for a cure. We drive it. 
Join us in making a difference in their lives.
PACS2 syndrome

Unique, single variant mutation.

The phenotype characterized with: varying degree of cerebellar dysgenesis and facial dysmorphism, intellectual disability from mild to severe with or without autism and neonatal epilepsy of different types. Learn more.

PACS2 foundation

iPSC, fibroblasts, mouse and

C. elegans models are already available for researchers. 8 projects are underway aimed at unraveling the mysteries of PACS2 syndrome mechanics and ultimately discovering a cure.

Learn more.

We are members of:

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PACS2 people

Among ca. 100 known cases around the globe, there are many similarities but each case is different in its own way. Discover our stories.

Are You PACS2 PATIENT
or FAMILY?
Here is Your COMMUNITY!
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PARTNERS:

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