White-Sutton syndrome

Emergency Management

There may be special considerations for the emergency management of individuals living with White-Sutton syndrome presenting to emergency departments.  

Clinical Care Guidelines

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. 

Synonyms

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

Personal Stories

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

If you would like to share your personal story with Rare Voices Australia and have it included on the RARE Portal, please visit Rare Voices Australia: Share Your Story.

Symptoms

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

Cause/Inheritance

White-Sutton syndrome is caused by genetic changes in the POGZ gene on Chromosome 1.^1,2 These genetic changes include single base changes (sequence variants/ a single letter changes in the genetic code), resulting in loss of function of the POGZ protein.^3,4  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; a genetic change in just one of the copies can result in White-Sutton syndrome (autosomal dominant condition).¹ More information on autosomal dominant inheritance pattern can be found at Centre for Genetics Education: Autosomal dominant inheritance factsheet.

For most individuals with White-Sutton syndrome, their genetic change in POGZ gene occurs randomly (de novo) prior to birth and is not passed down (inherited) from their parents. In rare cases, the genetic change in POGZ gene was inherited from an affected parent with mild symptoms.¹

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 about genetic counselling can be found at:

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

Diagnosis

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 could 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

Differential diagnosis (to rule out other condition) includes other disorders with intellectual disability.¹

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

Treatment

There is 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 and psychiatric treatment, 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 with your medical team to learn more about management strategies for White-Sutton syndrome and its associated symptoms. Treatment will depend on an individual’s specific symptoms.

Clinical Care

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.

Research and Data

Please visit Australian Clinical Trials to learn about clinical trials for White-Sutton syndrome in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for White-Sutton syndrome in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

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

Rare Disease Organisation(s)

Australia organisation

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)
Website: https://whitesutton.org/

The White Sutton Syndrome Foundation aims to build a community that will improve the quality of life for those diagnosed with White Sutton Syndrome and their families, to improve awareness and research to better understand its symptoms, treatments and prognosis.

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

Support Services/Resources

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.

Mental Health

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:

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

Other

• 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

References

1. Assia Batzir N, White J, Sutton VR. White-Sutton Syndrome. 2021. In: Adam MP, Feldman J, Mirzaa GM, et al., GeneReviews® [internet]. Seattle (WA): University of Washington Seattle. 1993–2025. Accessed 18 March 2025. Available from: https://www.ncbi.nlm.nih.gov/books/NBK573972/#
2. National Organization for Rare Disorders (NORD). White-Sutton syndrome. Updated 14 May 2024. Accessed 8 March 2025. https://rarediseases.org/rare-diseases/white-sutton-syndrome/
3. Assia Batzir N, Posey JE, Song X et al. Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am. J. Med. Genet. 2020;182(1):38-52. https://doi.org/10.1002/ajmg.a.61380
4. Matsumura K, Seiriki K, Okada S, et al. Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes. Nat. 2020;11(1):859. https://pmc.ncbi.nlm.nih.gov/articles/PMC7044294/
5. Orphanet. White-Sutton syndrome. Accessed 5 March 2024. https://www.orpha.net/en/disease/detail/468678

Page Last Updated

26/03/2025 16:09