Welcome

We want to extend a warm welcome to you, the newest member of our HNRNP-Related Neurodevelopmental Disorders (HNRNP-RNDDs) family. We know some of the feelings you may be going through and are here to guide and support you through this journey. You can learn more about our board of parents, researchers, and clinicians here.

This page has broad HNRNP-RNDDs information, and each HNRNP-RNDD has its own page with more specific resources.

Symptoms

700

Only ~700

documented cases exist in the world, making HNRNP-RNDDs rare

83%

Have delayed development and delayed speech or are non-verbal

57%

Experience some form of epilepsy in their lifetimes

What is a HNRNP-RNDD ?

HNRNP-Related Neurodevelopmental Disorders are Rare (~1 in 20,000) Disorders that effect the development from birth or infancy
Each disorder is caused by a de novo (or new and not inherited) genetic change
This foundation consists of several disorders that are all caused by variants in a family of genes that encode for the heterogeneous nuclear ribonuceloproteins (HNRNPs).

How Many Genes have been identified so far ?

Currently over fifteen HNRNP genes are associated with RNDDs
Seven have published related RNDDs:
- HNRNPC: HNRNPC-RNDD (in press)
- HNRNPG (or RBMX): Shashi-type intellectual disability and Gustavson Syndrome
- HNRNPH1: HNRNPH1-RNDD
- HNRNPH2: HNRNPH2-RNDD or Bain type intellectual disability
- HNRNPK: Au-Kline Syndrome or HNRNPK-RNDD
- HNRNPR: HNRNPR-RNDD
- HNRNPQ (or SYNCRIP): HNRNPQ/SYNCRIP-RNDD
- HNRNPU: HNRNPU-RNDD
Other HNRNP genes are still candidates for neurodevelopmental disorders:
- HNRNPD: HNRNPD-RNDD (Gillentine et al., 2021)
- HNRNPL: HNRNPL-RNDD (unpublished)
- HNRNPUL1: HNRNPUL1-RNDD (Gillentine et al., 2021)
- HNRNPUL2: HNRNPUL2-RNDD (Gillentine et al., 2021)
- PTBP1: PTBP1-RNDD (unpublished)
With more research being done and bringing together families and researchers impacted by multiple related conditions, we are gaining a better understanding of these disorders as a whole.

My child is affected, Is there a proven "cure"or treatment?

In short, no not yet.

BUT

While there are therapies that can help like physical, speech and occupational therapies. And medications that can help manage seizures.This is why the HNRNP Family foundation was started. We are dedicated to funding research, educating providers and building a supportive community for families.