White-Sutton syndrome is a neurodevelopmental disorder characterised by global developmental delay, intellectual disability, autism spectrum disorder and infant hypotonia (low muscle tone).¹ Additional features include certain distinct facial features, visual and hearing impairment, feeding and gastrointestinal issues, and others.¹ Symptoms are usually present during infancy or within first three years of life.²

White-Sutton syndrome is caused by genetic changes in the POGZ gene which plays a role in brain development.^1,3 These genetic changes typically occur randomly (de novo) before birth, and are rarely inherited. White-Sutton syndrome can affect both males and females. Management of the condition usually involves a multidisciplinary medical team and care is often life-long.

Synonyms: POGZ-related intellectual disability, intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, autosomal dominant intellectual disability 37, MRD37, WHSUS.²

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA: 468678 White-Sutton syndrome

There is no ICD-11 classification.

The symptoms and severity of White-Sutton syndrome vary widely between individuals.

Common signs and symptoms of White-Sutton syndrome may include:^1,4

• intellectual disabilities
• developmental delays particularly speech and language difficulties
• craniofacial features such as microcephaly (small head size), high and broad forehead, hypertelorism (widely spaced eyes), palate abnormalities and others
• behavioural attributes such as autism spectrum disorder (ASD), hyperactivity, aggressiveness
• low muscle tone (hypotonia) in infants
• hearing loss
• sleep disorders
• feeding and gastrointestinal problems
• short stature
• obesity
• visual impairment
• seizures

Please speak to your medical team to learn more about the symptoms and complications of White-Sutton syndrome. Additional information about the clinical characteristics of White-Sutton syndrome, including the speech and language profile, can also be found at:

• GeneReviews® : White-Sutton Syndrome (Clinical Characteristics)
• Centre of Research Excellence – Translational Centre for Speech Disorders: POGZ-related disorders

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

White-Sutton syndrome is a genetic condition. It is caused by disease-causing genetic changes (variants) in the POGZ gene on Chromosome 1.^1,2 These genetic variants include single base changes (sequence variants/a single letter changes in the genetic code), resulting in loss of function of the POGZ protein.^2,4 For more information on different types of genetic changes, please refer to Centre for Genetics Education: Types of genetic variation.

All individuals have two copies (alleles) of the POGZ gene – one on each chromosome that is inherited from each parent. White-Sutton syndrome is an autosomal dominant condition, which means that having a genetic variant in just one of the POGZ gene copies can result in White-Sutton syndrome.¹

For most individuals with White-Sutton syndrome, their genetic variant in POGZ gene occurs randomly (de novo) prior to birth and is not passed down (inherited) from their parents. In rare cases, the autosomal dominant genetic variant was inherited from an affected parent with mild symptoms.¹ More information on autosomal dominant inheritance pattern can be found at Centre for Genetics Education: Autosomal dominant inheritance factsheet.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information on genetic counselling can be found at:

• Information on Genetic Services 
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed 

There are no published consensus clinical diagnostic criteria for White-Sutton syndrome. Diagnosis of White-Sutton syndrome may be made based on clinical features and confirmed by molecular genetic testing.¹ Brain MRI imaging may be performed to detect central nervous system abnormalities.

More information about clinical characteristics and diagnosis, including when a diagnosis of White-Sutton syndrome may be considered, can be found at GeneReviews® : White-Sutton Syndrome (Diagnosis, Clinical Characteristics).

Genetic testing may involve chromosomal microarray analysis (CMA) or multigene/exome sequencing to identify genetic changes in the POGZ gene.¹ General information about these genetic tests can be found at:

• Pathology Tests Explained: Genome-wide chromosome microarray testing
• Pathology Tests Explained: Whole Genome or Whole Exome Testing for Childhood Syndromes

A differential diagnosis can rule out other conditions that have similar symptoms, such as other disorders with intellectual disability.¹

Please speak to your medical team to learn more about the available diagnostic pathways for White-Sutton syndrome.

There is currently no curative treatment for White-Sutton syndrome, but there are strategies to manage the symptoms, which usually involves a multidisciplinary medical team. Management strategies may involve speech and language therapy, physiotherapy, occupational therapy, behavioural intervention, early intervention and individualised education plans.^1,5

Individuals with White-Sutton syndrome may be monitored and evaluated for visual impairment, hearing loss, sleep disorders, gastrointestinal and feeding problems, seizures, genital and urinary tract complications, cardiovascular (heart) health, and treated accordingly.¹

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of White-Sutton syndrome may include general practitioners (GP), paediatricians, geneticists, neurologists, cardiologists, ophthalmologists, audiologists, gastroenterologists, endocrinologists, urologists, speech pathologists/therapists, occupational therapists, physiotherapists and psychiatrists.^1,2 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

We are not aware of any clinical care guidelines for White-Sutton syndrome in Australia.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:  

• GeneReviews®: White-Sutton syndrome (Management) includes recommendations on evaluations, treatment and surveillance for individuals with White-Sutton syndrome. 

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

We are not aware of any rare disease organisations for White-Sutton syndrome in Australia. If you are aware of any relevant organisations in Australia, please let us know via the Contribute page.

International Organisation:
White Sutton Syndrome Foundation (United States of America)
Website: https://whitesutton.org/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

White-Sutton syndrome varies between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

• Centre for Genetics Education: Facts About Health Condition Caused by Changes in the POGZ gene
• Centre of Research Excellence – Translational Centre for Speech Disorders: POGZ-related disorders
• National Organization for Rare Disorders (NORD): White-Sutton syndrome
• U.S. National Library of Medicine – MedLine Plus: White-Sutton syndrome

• GeneReviews®: White-Sutton syndrome
• Online Mendelian Inheritance in Man, OMIM^®:: #616364 White-Sutton syndrome; WHSUS
• Orphanet: White-Sutton syndrome
• Human Phenotype Ontology (HPO): White-Sutton syndrome

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.