Welcome to the PACS1 site. This site was created by parents whose children has been diagnosed with PACS1. We are not medical professionals, but rather parents that wish to increase awareness of PACS1 syndrome and offer guideposts. Our goal it to offer newly diagnosed families support and to promote awareness of this very rare syndrome.
PACS1 is the deletion within the 11th Chromosome. PACS1 children are unique because the deletion is the exact same in every child (p.Arg203Trp mutation). This mutation is only discovered with Exome Sequencing.
Please contact us at any time with questions: PACS1information@gmail.com