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WHAT IS PACS1-RELATED SYNDROME?

PACS1-related syndrome is defined as intellectual disability, developmental delay and mildly distinctive facial features.

Sufferers may also experience seizures, difficulty eating and autism.

There are just 70 known PACS1-related syndrome patients worldwide.

PACS1-related syndrome is caused by a mutation in the PACS1 gene, which is not inherited but thought to occur during the making of egg or sperm.

Facial features can include:

  • Low hairline on the forehead
  • Eyes spaced far apart and slanting downwards
  • Thick eyebrows that may be connected
  • Long eyelashes
  • Large ears set low on the head
  • Gaps between teeth

There is no cure.

Treatment can include anti-epilepsy drugs to control seizures, as well as feeding tubes if sufferers have difficulty eating. 

Some patients may also benefit from speech, physical and occupational therapy.

Source: National Center for Advancing Translational Sciences

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