Jansen-De Vries Syndrome (JDVS)

Jansen-De Vries Syndrome, also known as intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, is related to hypotonia and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Jansen-De Vries Syndrome is PPM1D (Protein Phosphatase, Mg2+/Mn2+ Dependent 1D). Affiliated tissues include breast, and related phenotypes are hyperacusis and intellectual disability