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
- 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.
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
Individuals with JdVS have been found to be extremely social, loving, and outgoing. In other words, joyous and beautiful people to be around. These therapies help them build confidence and overcome challenges!
Welcome to the JdVS community, we’re so glad you found us!
Hope Spread Around the World
Currently JdVS has been identified in 15 countries throughout the world and on 4 continents.
While extremely new and quite rare, newly diagnosed patients and their families are identified all the time and we look forward to growing our beautiful community! View our interactive map to locate identified JdVS patients and families around the world!