Within the past five years, geneticists have discovered pathogenic variants in the PPM1D gene, now known as Jansen de Vries Syndrome. It can be describes as a nonsense alteration that results in a shortened protein. This mutation causes a wide range of overlapping clinical features including neurodevelopment issues, anxiety, unique facial features, short and wide hands/feet, growth hormone deficie
ncy and a variety of other health issues. It is important to note that not every individual exhibits all of these symptoms. 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 these students and learning how to help them succeed. Family members of recently diagnosed have also found their JdVS family members to be extremely social, loving, outgoing, and flirtatious. In other words, joyous and beautiful people to be around! We hope that you learn from the information shared on this page and ask that you be respectful and appropriate, if not comments and posts will not be allowed.
