PPM1D
The information for this summary of PPM1D-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full PPM1D Gene Guide
The online Gene Guide includes more information about PPM1D such as the chance of having another child with this condition, behavior and development concerns linked to PPM1D-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
PPM1D-related syndrome is also called Jansen-de Vries syndrome (JdVS). For this webpage, we will be using the name PPM1D-related syndrome to encompass the wide range of variants observed in the people identified.
What is PPM1D-related syndrome?
PPM1D-related syndrome happens when there are changes in the PPM1D gene. These changes can keep the gene from working as it should.
Key Role
The PPM1D gene plays a role in deactivating other genes by modifying the shape of chromosomes. Chromosomes are the structures that house DNA within our cells.
Symptoms
Because the PPM1D gene is important for brain activity, many people who have PPM1D-related syndrome have:
- Developmental delay
- Intellectual disability
- Learning challenges
- Language delay
- Autism
- Attention-deficit/hyperactivity disorder (ADHD)
- Anxiety
- Walking challenges
- Recurrent vomiting
- Gastroesophageal reflux disease (GERD)
- High pain threshold
- Short height
How many people have PPM1D-related syndrome?
As of 2026, about 73 people with PPM1D-related syndrome have been identified in a medical clinic.
Support Resources
- Simons Searchlight Facebook Group –
- Jansen de Vries Syndrome Foundation – https://jansen-devries.org
- NDD GeneHub – PPM1D
- SFARI Gene – PPM1D website
GeneReviews
GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.
There are currently no GeneReviews for PPM1D.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about PPM1D genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.
Family Stories
We do not currently have any stories from PPM1D families.
Click here to share your family’s story!