Are you close to someone newly diagnosed?  Facing a new diagnosis (especially a rare disease with little information/research) can be isolating and confusing, but having answers can also be the start of a new path to success. 

There are many ways friends, family, and loved ones can reach out and support families going through this transition.  Consider making a meal for a newly diagnosed family, offering childcare, or getting involved with our foundation to show you care!

Start Here

Genes are complicated. This document was created for parents/caregivers of an individual diagnosed with JdVS, by parents who were once in your shoes, in an effort to make it easier to understand.


The Human Disease Gene Website is an online library that contains clinical information regarding specific genes and copy number variants. Developed by researcher Bert de Vries and his colleagues, additional professional information regarding the PPM1D gene can be found on the site.


We aim to offer resources and support for families, friends, specialists, and educators to provide guidance on caring for those with JdVS.


JAMA logo

What Families Need to Know About Genetic Testing

Pediatricians may recommend a genetics consult or genetic testing for a child. This article from…

View Resource
Unique Logo

Understanding Rare Chromosome and Gene Disorders

You might despair at the lack of information about your own or your child’s disorder or…

View Resource

Template for a JdVS Introduction Letter

Sharing your own or your loved one’s JdVS diagnosis and the unique characteristics associated with…

View Resource

PPM1D Related Publication (June 2022)

Dr. Herbert Lachman, a member of the JdVS Medical Advisory Board is a co-first author…

View Resource
Child coloring

Learning & JdVS

Each individual with JdVS is unique and may need additional supports within the learning environment.…

View Resource
Boy in a wheelchair next to a lake

JdVS/PPM1D Publications

  Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families…

View Resource
Avery by Marta Ales

Ideas for Explaining Your Child’s Differences to Them or Their Siblings

This book was inspired by one of our beautiful JdVS kiddos! Avery by Marta Altés

View Resource
Kid on a dirt trail riding his bike

Guidance from a Teacher

Recommendations for Educators Teaching a student with JdVS is truly a once in a lifetime…

View Resource
Baby in a swimming pool, floating on their back

Guidance from a Physical Therapist

What makes JdVS kids unique? Navigating the unique presentation and combination of underlying complexities is…

View Resource


Like many Rare Diseases, there is insufficient medical information about JdVS. Some of the JdVS…

View Resource