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.

Connecting BPTF families globally to create a network for learning and support

About BPTF families

Welcome. We are glad you’re here.

We want to bring together the families worldwide who love one or more people with a BPTF gene change on chromosome 17, also known as 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, supporting and discovery.

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

If you or someone you know has just found out about a BPTF gene mutation, please initially email hello@bptffamilies.org and we will send you a reply with some resources, contacts and links to connect you with our online community.