About Jansen deVries Syndrome
Hope is on the horizon for JdVS families.
Building a community. Spreading awareness. Supporting research. Uplifting families.
Our Mission
Raising Hope, Together.
What is JdVS?
First identified in 2017, geneticists discovered pathogenic variants in the PPM1D gene, now known as Jansen de Vries Syndrome (JdVS). It can be described as a nonsense alteration that results in a shortened protein.
This mutation causes a wide range of overlapping clinical features including:
- neurodevelopmental issues
- anxiety
- unique facial features
- short and wide hands/feet
- growth hormone deficiency
- feeding issues
- vomiting episodes
- a variety of other health issues
It is important to note that not every individual exhibits all of these symptoms.
About JdVS and the PPM1D Gene
The gene implicated in Jansen de Vries Syndrome (JdVS) is located on the 17th chromosome (specific location: 17q23.2) and has 6 exons. Exons are portions of the gene that code for proteins. Individuals with JdVS have variants/miscodings on the 5th and/or 6th exon of the PPM1D gene that result in a shortened (truncated) protein.
Facilitating Success
Therapies and early interventions have been proven to be very helpful in ensuring those diagnosed
can be the best version of themselves.
Family members, therapists, and teachers play an extremely important role in recognizing the needs
of those with JdVS and learning how to help them succeed.
Such therapies include, but are not limited to:
- Physical Therapy
- Occupational Therapy (including feeding and sensory therapies)
- Speech Therapy
- Applied Behavioral Analysis Therapy
- Aquatic Therapy
- Equine Therapy
Frequently Asked Questions
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What are common signs or symptoms of JdVS?
While all children are different, many of the common early signs are as follows: Feeding difficulties/trouble with suck/swallow reflex Delayed gross motor milestones such as late to sit, stand and walk Delayed speech milestones Delayed fine motor milestones such as feeding self, pincer grasp Chronic constipation Episodic vomiting Hypotonic muscle tone (floppy) High pain threshold Anxiety and hypersensitivity to sound Vision Laryngomalacia (“floppy voice box”) and enlarged adenoids Frequent ear infections Hernias (umbilical, inguinal) Excessive socialiblity Inhibited impulse control Increased sensory seeking behaviors
What causes variations in the PPM1D gene?
PPM1D variations occur randomly and spontaneously. The reasons for these genetic changes are unknown. There are a few known cases of PPM1D variations being passed down through a parental carrier, however most cases we know about are found to be de novo (occurring spontaneously).
What is a de novo genetic mutation?
A genetic alteration that is present for the first time in one family member as a result of a variant (or mutation) in a germ cell (egg or sperm) of one of the parents, or a variant that arises in the fertilized egg itself during early embryogenesis. Also called de novo variant, new mutation, and new variant.
How are patients diagnosed with JdVS?
Patients are diagnosed through a genetic blood test called Whole Exome Sequencing (WES) or a specific genetic test called Sanger sequencing to look specifically at the PPM1D gene. Learn what parents can expect about genetic testing.
Is There a Cure for JdVS?
Jansen de Vries Syndrome is a genetic disorder that we are just beginning to understand. Currently there is no known cure or medical interventions specifically for JdVS. That being said, with early and intensive interventions (physical therapy, occupational therapy, speech therapy etc.) those with JdVS have made great strides and continue to amaze us with all they are able to do!
What can I do to help the JdVS Foundation?
There are a variety of ways to help support our mission! Consider making a donation to our organization or organizing a fundraiser. Your donations help us further our mission. Additionally, if you are a parent or patient, please consider registering on our site. The more individuals we connect with the more support we can provide.