ADNP Kids Research Foundation
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What is ADNP Syndrome?


WHAT IS ADNP SYNDROME?


ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare neurodevelopmental genetic disorder caused by a mutation in the ADNP (Activity Dependent Neuroprotective Protein) gene. This important brain gene is highly expressed.  It affects brain formation, connectivity and developement, as well as brain function and acts as protein-protecting nerve cells against electrical blockade.  Recent studies identified ADNP as a regulator of axonal transport, dendritic spine plasticity and autophagy.

​When mutated, this gene can affect brain formation, development and brain function.  In addition to the brain, the ADNP gene also affects many other organs and functions of the body.  It can
 cause problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. It can also cause mild to severe delays in intelligence, speech and motor planning, (including gross motor, fine motor and oral motor). It causes behavior disorders such as Autism Spectrum Disorder (ASD) in a substantial proportion of cases. In fact, it is estimated: ADNP to be mutated in at least 0.17% of genetic autism cases, making it one of the most frequent ASD-associated genes known to date.


UNIQUE BIOMARKER
When the ADNP gene is mutated, a recent study has found that a substantial amount of the children have/had "early tooth eruption".  Their baby teeth come in extremely quick, the teeth are usually very small, jagged, wide spaced and with color differences.  

Most ADNP children have a full mouth of teeth by their 1st birthday, including molars.  Early tooth eruption is NOT seen in any other syndrome, making it a unique and early identifiable diagnostic biomarker for ADNP.
 To read more click here.

To see a one page fact sheet please click the link below.  If you would like a full description please click here.

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All rights reserved. No portion of the content of this website may be reproduced in any manner without the written permission of the author/creator.   Any information used from this website must also have credit noted to ADNP Kids Research Foundation / www.adnpfoundation.org. The information on this website is not substitute for personal diagnosis or medical care advise. Families and patients should consult a medically qualified clinician in all matters relating to genetic diagnosis, management and health. Information on ADNP changes is a very fast-moving field and while the information in this guide is believed to be the best available at the time of publication, some facts may later be updated or change. Please see additional disclosures on our PRIVACY POLICY page.
  • About Us
    • Our Mission Our Vision Our Goal >
      • 501(c)(3) Determination
    • Board of Directors
    • Medical and Scientific Advisory Board
  • WHAT IS ADNP
    • Newly Diagnosed
    • ADNP Syndrome Full Description
    • ADNP GENE
    • Phenotype/Symptoms List
  • Connect
    • Contact Registry
    • contact us
    • ADNP Family Conference >
      • HIGHLIGHTS- ADNP Syndrome Family Conference
      • TSA Travel Help
      • #CureADNP
  • RESEARCH
    • TREATMENT RESEARCH & DEVELOPMENT UPDATES
    • Seaver Autism Center
    • Ketamine Trial Phase 2
    • publications
  • NEWS
    • NET Collaboration Study
    • Glimpse of Hope For ADNP Patients
    • ketamine
    • Mount Sinai Launches First Drug Trial for ADNP Syndrome
    • Seaver Midtown Partnership
    • Biomarker Discovered
    • NEWS - p.Tyr719* Case Study
    • NEWS HIGHLIGHTS- ADNP Syndrome Family Conference
  • ADNP STORE
  • DONATE/SUPPORT
    • WARRIOR FUN RUN >
      • WARRIOR FUN RUN PHOTO RELEASE