Intellectual disability – PACS1 mutations

What is PACS1 syndrome?

It is a rare disease which presents with intellectual disability, as well as speech and language issues, as well as characteristic facial features. Symptoms might also include neurological, behavioral and other medical issues.

Less than 30 individuals have been diagnosed with the syndrome globally.

This rare disease is also known as Schuurs-Hoeijmakers syndrome.

What gene changes cause PACS1 syndrome?

Changes in the PACS1 gene are responsible for the syndrome.
It is inherited in an autosomal dominant pattern. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of PACS1 syndrome?

One of the main symptoms of the syndrome is intellectual disability, this can range from mild to moderate. Affected individuals also experience speech issues, and usually their speech ranges from very limited to none at all.

Unique facial features of the syndrome include thick and highly arched eyebrows, long eyelashes, widely set eyes, downward pointing outside corners of the eyes, droopy eyelids, a wide mouth with corners that point down, a thin upper lip and widely spaced teeth.
Symptoms of the syndrome can also affect multiple parts of the body including the heart and brain.
Individuals often experience walking delay, and then walk with a gait, making their walking unsteady.
Feeding issues are common with the syndrome. Affected individuals, from childhood, prefer soft foods and often have issues learning how to chew. In later life individuals also often suffer with reflux.
Neurological symptoms of the syndrome include features, affecting communication and social skills, often associated with autism. Individuals may also be diagnosed with attention-deficit, hyperactivity disorder (ADD, ADHD) or obsessive compulsive disorder (OCD). Seizures are also common with the syndrome.

How does someone get tested for PACS1 syndrome?

The initial testing for PACS1 syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."


Paula and Bobby
Parents of Lillie

What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

Benefits of FDNA Telehealth


Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.


FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

Ease of Use

Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

Accuracy & Precision

Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

Value for

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!