Here is some key information about what is known about NEDDFL Syndrome, caused by a BPTF gene change:

NEDDFL Syndrome is not progressive or degenerative. It is considered a neuro-developmental disorder, which means that the mutated BPTF gene impacts the individual’s development and functioning. It does not appear that these impacts worsen over time, rather, for most, slower development or more challenging functional ability in some areas is present from infancy or early childhood.

After reaching adulthood, there may likely be some level of residual functional impairment in one or more domains, however the number of adults currently diagnosed is only small, because of the relatively recent ‘discovery’ of the Syndrome and recent rise in genetic testing of children.

There is no fixed blueprint or life trajectory, with lots of beautiful variation in the small group of individuals that we know of globally who have been diagnosed (<~100).

The individual will likely have some atypical physical features (termed ‘dysmorphic features’ or ‘anomalies’) but these may be very subtle or mild in some cases. The full title for ‘NEDDFL Syndrome’ is ‘Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies’, which captures that these physical differences are most often found in the head/face, hands and feet.

Functionally, the individual may experience delayed development and ongoing impairment, which may be across one or usually multiple domains like speech, cognition, eating, and movement (gross motor skills and fine motor skills). You may see delays termed as an associated ‘Global Developmental Delay’ in children. The extent of developmental delays can range significantly, and it may not be present in every domain of function.

There is a correlation between NEDDFL Syndrome and experiencing seizures (sometimes diagnosed as epilepsy), most typically with onset during infancy or childhood. If the individual is not already experiencing seizures, this is not a guarantee that they will, but it does mean they are more likely to occur than in someone without the BPTF mutation.

NEDDFL doesn’t stop an individual from developing – it just means they will develop in their own way and in their own time. However, there is strong evidence in our community group that intervention and support improve developmental outcomes.

There are adults living and working independently with a BPTF mutation / NEDDFL Syndrome who attest to having some mild-moderate impairments, and have gained employment, found happiness in meaningful relationships, and even have children of their own.

BPTF mutations originate ‘de novo’, which means spontaneously by error, early in the formation of the genetic material in utero, but when someone already has a BPTF mutation, there is then a 50%/50% chance of passing the BPTF mutation from a parent to child. It is an ‘autosomal dominant’ trait, meaning that someone cannot be a carrier without being impacted themselves.

A key thing to remember is that if you or your child or another loved one has been diagnosed with a BPTF mutation, it is nobody’s fault – the mutation is random and has not been identified as having an environmental cause. Equally, if you are an individual or family member who is learning of a diagnosis later in life, outside of early childhood, (either before or after having children), this is not a failure on your part.

BPTF mutations are very easily missed or misdiagnosed. Many of the impacts of BPTF mutations are also present in other individuals and groups within the general population, and the connection with the possible range of often subtle physical differences can be overlooked.

There is no ‘treatment’ or ‘cure’ for a BPTF mutation. However, the field of gene therapies is very new, and there are exciting developments in techniques and technologies which are being applied to other genetic conditions and syndromes.

A paper which explained the link between this gene mutation and the impact on a small group of individuals was first published in 2017 and the number of people currently diagnosed with NEDDFL Syndrome worldwide remains small. Research around how it presents and impacts on individuals is still considered emergent, and the pool of published literature is limited.