Xia-Gibbs Society, Inc

Rare Disease Day is February 28th, 2023 and Xia-Gibbs Society is raising much-needed funds for research into Xia-Gibbs Syndrome.

Please give generously as we are the only dedicated source of funds for research into this rare syndrome!

Xia-Gibbs Syndrome (XGS) is a rare genetic disorder in which the AHDC1 gene is damaged. As a neurodevelopmental disorder, it originates in the brain, causing physical and intellectual disability.

XGS appears within the first year of life with hypotonia (poor muscle tone), sleep apnea and poor feeding. Next there is severe global developmental and expressive language delay. Older children suffer severe intellectual disability and are sometimes classified with symptoms of autism spectrum disorders (ASDs). Some individuals suffer from scoliosis and/or seizures, and there are a subset with behavioral issues, including aggression and self-injurious behaviors.

There is never a family history, so there is usually a ‘diagnostic odyssey’. Many families search for years before finding the cause of their loved one’s symptoms, receiving misinformation and inadequate care along the way. This is why the building of awareness and collaboration between families and scientists that Xia-Gibbs Society promotes is so important.