PACS1 Syndrome is a very rare genetic condition caused by mutation of the PACS1 gene. It is not inherited from either parent (a “de novo” mutation) but it will be passed on to a patient’s child. As of 2019, there are now 100 cases that have been identified worldwide. Diagnosis is typically done using full genome or exome sequencing. Both methods are expensive and not easily available. There are likely many more cases out there, that will eventually be reported as people learn about the condition, and testing becomes more affordable and available .In combination, this condition affects walking, talking, feeding, and learning skills. No impact on life expectancy has been found. Currently there is no single “cure”.
