A person lifting a young girl in the air outdoors near trees and grass. Child with a rare condition (BPTF gene mutation or NEDDFL Syndrome) with parent.

BPTF Families is here to connect and empower individuals and families impacted by the BPTF-associated neurodevelopmental syndrome – sharing knowledge, supporting early diagnosis and care, and advancing research through collective advocacy.

Welcome. We are glad you’re here.

We want to bring together the families worldwide who love one or more people with ‘BPTF’ – a BPTF gene variant on chromosome 17 (17.q24.2, OMIM#617755), also known as BPTF-associated Neurodevelopmental Disorder or ‘NEDDFL’ Syndrome (Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies).

We want to continue in the footsteps of the original families, building a community that fosters a spirit of sharing, learning, support and discovery.

We want to help diagnosed families find the information, understanding and hope they have been looking for.

We want to mobilise our collective experience and expertise to attract generous knowledge partners and bring momentum to research efforts.

If you or someone you know wants to learn more about a BPTF diagnosis, connect with the BPTF community or be involved in our Organisation’s work, please email hello@bptffamilies.org.