This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
PACS-1 related syndrome causes intellectual disability, developmental delay, and distinctive facial features. This condition is present from birth. Symptoms of PACS-1 related syndrome may include low muscle tone, feeding difficulties, constipation, seizures, and heart defects. PACS1-related syndrome is caused by a specific genetic variant in the PACS1 gene. In most cases, this gene variant is not inherited, but occurs as a new change during the making of the egg or the sperm. The diagnosis is based on the symptoms, a clinical examination, and may be confirmed by the results of genetic testing. As of 2017, less than 70 people have been diagnosed with this syndrome. Treatment for PACS1-related syndrome is focused on managing the symptoms and may include medications to prevent seizures and placement of a feeding tube to help with weight gain.
For more information, visit GARD.