SATB2 Associated Syndrome

Congenital Anomalies

SATB2 Associated Syndrome

Rare Disease Classifications:

ORPHA:576278 SATB2-associated syndrome

No ICD-11 classification available

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

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.

Contributors

This page has been co-developed with RVA Partner, SATB2 Connect.

Quick Page Search:
Emergency Management | Clinical Care Guidelines | Synonyms | Summary | Personal Stories | Symptoms | Cause/Inheritance | Diagnosis | Treatment | Clinical Care | Research and Data | Rare Disease Organisation(s) | Support Services/Resources | Mental Health | Other | References

Emergency Management

Below are some considerations for the emergency management of individuals living with SATB2 Associated Syndrome, including when presenting to emergency departments:

  • Will need 24/7 attendant/carer support in Emergency and Hospital, regardless of age
  • May not be able to communicate with spoken words and may use alternative communication methods such as key word sign, sign language or Alternative and Augmentative Communication tools and devices
  • May have emotional regulation difficulties
  • May have a high pain threshold
  • May have seizures
  • May have feeding difficulties
  • May have continence issues
Clinical Care Guidelines

We are not aware of any clinical care guidelines for SATB2 Associated Syndrome in Australia, but international guidelines are being developed.

GeneReviews®: SATB2-Associated Syndrome (Management section) includes recommendations on evaluations, treatment and surveillance, based on experience managing individuals with SATB2 Associated Syndrome.1

Synonyms

2q33.1 Microdeletion Syndrome; Glass Syndrome; SAS

SATB2 Associated Syndrome was initially known as 'Glass Syndrome', named after Dr Ian Glass who was the first to describe the syndrome in a scientific publication. It was later renamed after the SATB2 gene was discovered as the causal gene.

Summary

SATB2 Associated Syndrome is a congenital condition that affects multiple body systems (multisystem condition).1 It is characterised by developmental delay, intellectual disability with limited or no speech, certain behavioural attributes, and differences of the teeth and/ or palate (roof of the mouth).1-3 Other features include low muscle tone (hypotonia), feeding difficulties, and differences in the skeletal system including low bone mineral density with an increased risk of fractures. Some individuals also have seizures.1,2

‘SATB2’ can be used as an acronym to describe some of the common features:1,5

SATB2 Associated Syndrome is caused by genetic changes in the SATB2 gene.1,4 These genetic changes typically occur randomly (de novo) before birth, and are rarely inherited. Both males and females can have a diagnosis of SATB2 Associated Syndrome. Management of the condition involves a multidisciplinary medical team and care is often life-long.1

Useful Links for Professionals

SATB2 Connect: Resources for health professionals

GeneReviews®: SATB2-Associated Syndrome

Orphanet: SATB2-associated syndrome

Online Mendelian Inheritance in Man (OMIM): #612313 Glass Syndrome; GLASS

Personal Stories

SATB2 Associated Syndrome varies between individuals, and each person’s experience is unique.

Please visit SATB2 Connect: Family Stories to read the personal stories of families living with SATB2 Associated Syndrome.

Symptoms

Common features of SATB2 Associated Syndrome include, but are not limited to, the following:1-8

  • developmental delays
  • intellectual disability with limited or no speech
  • palate abnormalities such as cleft palate (opening in the roof of the mouth), high-arched palate (roof of the mouth is higher and more narrow than usual) and bifid uvula (uvula that is forked or split into two)
  • teeth differences
  • jovial or friendly personality
  • behavioural attributes such as hyperactivity, anxiety, impulsivity and features on the autism spectrum
  • sleep issues
  • feeding difficulties
  • low muscle tone (hypotonia)
  • seizures and/ or epilepsy
  • skeletal differences such as scoliosis (sway to the spine), tibial bowing (a bent appearance to the lower part of the leg bone), and joint contractures (stiffening of the joints), with low bone density
  • a range of differences on neuroimaging (imaging of the brain and other parts of the central nervous system) have been described

Further information about the clinical description of SATB2 Associated Syndrome can be found at GeneReviews®: SATB2-Associated Syndrome (Clinical Characteristics section).1

Please speak to your medical team to learn more about the features and health implications associated with SATB2 Associated Syndrome.

Cause/Inheritance

SATB2 Associated Syndrome is a genetic condition caused by genetic changes in the SATB2 gene on Chromosome 2. These genetic changes include single base changes (sequence variants), deletions, duplications, as well as large chromosomal rearrangements and translocations that span the SATB2 locus.4

Every individual has two copies (alleles) of the SATB2 gene – one on each chromosome; a genetic change in just one of the copies can result in SATB2 Associated Syndrome (autosomal dominant condition).1

For most individuals with SATB2 Associated Syndrome, their genetic change in SATB2 occurs randomly (de novo) prior to birth and is not passed down (inherited) from their parents. In a small number of reported families, the genetic change in one of the SATB2 alleles had been inherited from a parent who has the genetic change in some but not all of their cells (this is called genetic mosaicism), and often has typical learning and health.1,4

If you would like to learn more about the inheritance and impact of SATB2 Associated Syndrome, 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:

Diagnosis

There are no formal clinical diagnostic criteria established for SATB2 Associated Syndrome.1 A diagnosis of SATB2 Associated Syndrome may be suspected based on certain clinical characteristics and confirmed by genetic testing.

More information about clinical characteristics, including when a diagnosis of SATB2 Associated Syndrome should be suspected, can be found at GeneReviews®: SATB2-Associated Syndrome (under Diagnosis).1

Genetic testing may firstly involve chromosomal microarray analysis (CMA), and if that is not diagnostic exome or genome sequencing may be used, to identify genetic changes in the SATB2 gene.1

General information about these genetic tests can be found at:

Differential diagnosis (to rule out other condition) includes KBG syndrome and Angelman syndrome.1

Please speak to your medical team to learn more about the available diagnostic pathways for SATB2 Associated Syndrome.

Treatment

There is no curative treatment for SATB2 Associated Syndrome, but there are strategies to manage the symptoms, reduce complications and improve quality of life. This involves a multidisciplinary medical team and care is often life-long. Management strategies may include speech and language therapy, physiotherapy, occupational therapy, feeding therapy and use of assistive equipment as well as augmentative and alternative communication (AAC) tools.1,6 Surgery may be required for a cleft palate.6

Please speak with your medical team to learn more about suitable management strategies for SATB2 Associated Syndrome. The strategies will depend on an individual’s specific symptoms.

Clinical Care

Healthcare professionals involved in the treatment of SATB2 Associated Syndrome may include general practitioners (GP), paediatricians, geneticists, cardiologists, neurologists, ENT specialists, dentists, speech therapists, psychologists, occupational therapists, physiotherapists, social workers, and behavioural therapists.5 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Research and Data

SATB2 Connect: SATB2 Research has information about Australian research collaborations for SATB2 Associated Syndrome.

Please visit Australian Clinical Trials to learn about clinical trials for SATB2 Associated Syndrome in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for SATB2 Associated 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)

SATB2 Connect RVA Partner Australian Organisation
Website: https://satb2.org.au/
Email: [email protected]

SATB2 Connect aims to advocate for those diagnosed with SATB2 Associated Syndrome, to raise awareness of SATB2 Associated Syndrome, and to educate about SATB2 Associated Syndrome, including professionals through much-needed research. SATB2 Connect is an ACNC-registered organisation.

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

Support Services/Resources

SATB2 Connect has support resources for parents/caregivers, including a parent’s roadmap that has information to help parents and caregivers understand more about diagnosis of SATB2 Associated Syndrome, prepare for paediatric appointments, navigate the NDIS as well as the education system.

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:

Other

Further information on SATB2-associated syndrome can be found at:

References
  1. Zarate YA, Bosanko K, Fish J. SATB2-Associated Syndrome. 2017. Updated 20 June 2024. In: Adam MP, Mirzaa GM, Pagon RA, et al. GeneReviews® [internet]. Seattle (WA): University of Washington Seattle. 1993–. Accessed 26 November 2024. https://www.ncbi.nlm.nih.gov/books/NBK458647
  2. Online Mendelian Inheritance in Man (OMIM). #612313 Glass Syndrome. 2008. Updated 18 August 2023. Accessed 26 November 2024. https://omim.org/entry/612313
  3. Genetic and Rare Diseases (GARD) Information Center. SATB2-associated syndrome. https://rarediseases.info.nih.gov/diseases/22326/satb2-associated-syndrome
  4. Zarate YA, Bosanko KA, Caffrey AR, et al. Mutation update for the SATB2 gene. Hum Mutat. 2019; 40(8): 1013-1029. http://doi.org/10.1002/humu.23771
  5. SATB2 Connect. What is SATB2? Sydney; 2022. 1p. https://satb2.org.au/wp-content/uploads/2023/03/1.-What-is-SATB2.pdf
  6. Thomason A, Pankey E, Nutt B, et al. Speech, language, and feeding phenotypes of SATB2-associated syndrome. Clin. Genet. 2019; 96(6): 485-492. https://doi.org/10.1111/cge.13619.
  7. Cotton AP, Gokarakonda S, Caffrey AR, et al. Behavioral phenotype and sleep problems in SATB2-associated syndrome. Dev. Med. Child. Neurol. 2020; 62: 827-832. https://doi.org/10.1111/dmcn.14330
  8. Bissell S, Oliver C, Moss J, et al. The behavioural phenotype of SATB2-associated syndrome: a within-group and cross-syndrome analysis. J. Neurodevelop. Disord. 2022; 14:25. https://doi.org/10.1186/s11689-022-09426-0
Page Last Updated

09/12/2024 10:00