About Jansen de Vries Syndrome
Hope begins with understanding.
Clearer information helps families, caregivers, and professionals move forward together.
What is JdVS?
First identified in 2017, pathogenic variants in the PPM1D gene are now known as Jansen de Vries Syndrome, or JdVS. These variants result in a shortened protein and can affect many systems of the body.
JdVS can involve a wide range of overlapping clinical features, and no two individuals present in exactly the same way.
- Neurodevelopmental differences
- Anxiety and sensory needs
- Unique facial features
- Short and wide hands or feet
- Growth hormone deficiency
- Feeding difficulties and vomiting episodes
- Additional health concerns that vary by individual
It is important to note that not every individual exhibits all of these symptoms.
About JdVS and the PPM1D Gene
The gene implicated in JdVS is located on chromosome 17 at 17q23.2 and has 6 exons. Individuals with JdVS have variants in exon 5 and/or 6 of the PPM1D gene that result in a shortened, or truncated, protein.
Genes can feel intimidating at first, so the foundation also offers a family-friendly Genetics 101 resource to help explain the basics in more approachable language.
Facilitating Success
Therapies and early interventions can be incredibly helpful in supporting individuals with JdVS as they grow, learn, and build confidence.
Families, therapists, educators, and clinicians all play an important role in helping each child become the best version of themselves.
Explore Our ResourcesFrequently Asked Questions
These are some of the most common questions families ask when they are first learning about JdVS.
What are common signs or symptoms of JdVS?
While every child is different, common early signs can include feeding difficulties, low muscle tone, delayed speech or motor milestones, chronic constipation, episodic vomiting, high pain threshold, sound sensitivity, frequent ear infections, hernias, strong sociability, and sensory-seeking behaviors.
What causes variations in the PPM1D gene?
PPM1D variations usually occur randomly and spontaneously. A small number of cases are inherited from a parent, but most known cases are considered de novo, meaning the change occurred for the first time in that individual.
What is a de novo genetic mutation?
A de novo mutation is a genetic change that appears for the first time in one family member. It can arise in an egg or sperm cell or early in embryonic development.
How are patients diagnosed with JdVS?
Patients are often diagnosed through Whole Exome Sequencing or targeted testing such as Sanger sequencing focused on the PPM1D gene.
What therapies are often helpful?
Families commonly report positive impact from physical therapy, occupational therapy, speech therapy, feeding and sensory therapies, aquatic therapy, equine therapy, and behavior-focused supports when appropriate.
Is there a cure for JdVS?
There is currently no known cure or JdVS-specific medical treatment. Even so, early and consistent interventions can make a meaningful difference, and many individuals continue to make inspiring progress.
What can I do to help the foundation?
You can support the mission by donating, fundraising, volunteering, and helping families connect with the community and registry.