Below is a summary for the PACS1 gene observed in research publications. This is not meant to take the place of medical advice.
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What is Schuurs-Hoeijmakers syndrome?
Schuurs-Hoeijmakers syndrome happens when there are changes in the PACS1 gene. These changes can keep the gene from working as it should.
Schuurs-Hoeijmakers syndrome is also called PACS1 neurodevelopmental disorder.
The PACS1 gene plays an important role in moving proteins to other cells where they are needed, and it is essential for development in utero.
Because the PACS1 gene is important for many parts of the body, some people may have:
- Autistic features
- Language delay
- Intellectual disability
- Heart issues
- Feeding difficulty and constipation
- Low muscle tone
- Brain changes seen on magnetic resonance imaging (MRI)
- Behavior issues
- Laughing episodes
- Undescended testicles in males
- Attention deficit hyperactivity disorder, or ADHD
Do people who have Schuurs-Hoeijmakers syndrome look different?
People who have Schuurs-Hoeijmakers syndrome may look different. Appearance can vary and can include some but not all of these features:
- Low-set ears
- Long eyelashes
- Wide-set eyes
- Droopy eyelids
- Wide mouth
- Wide-set teeth
- Smaller than average head size
- Short height
How many people have Schuurs-Hoeijmakers syndrome?
As of 2022, about 46 people with Schuurs-Hoeijmakers syndrome, or PACS1 neurodevelopmental disorder, have been described in medical research.
Research Article Summaries
Previous Registry Reports