White-Sutton syndrome

What is White-Sutton syndrome?

It is a rare genetic syndrome that often presents with autism features that affect an individual's social skills, behaviour and ability to communicate. Delayed development and intellectual disability also characterize the syndrome. It is also known as Mental Retardation Autosomal Dominant 37 syndrome.

What gene changes cause White-Sutton syndrome?

Changes in the POGZ gene are responsible for causing the syndrome.

It is inherited in an autosomal dominant pattern however most cases of the syndrome to date have been caused by a new or de novo mutation in the gene.

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.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of White-Sutton syndrome?

The main symptoms include intellectual disability and developmental delay. Speech and language tend to be more affected than other areas of development such as motor skills. It is common for affected individuals to display features of autism spectrum disorder, and these can also sometimes be combined with an overly friendly personality. Hyperactivity is another common feature.

Unique facial features of the syndrome include a small head (microcephaly), a wide and short skull, wide set eyes, a flattered middle part of the face, small mouth, and a thin upper lip. Vision problems are also associated with the syndrome, as is a short stature.
Other symptoms include issues with sleeping, obesity and gastrointestinal issues.

How does someone get tested for White-Sutton syndrome?

The initial testing for White-Sutton 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.

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!