TCF20-Related Disorder
Rare Disease Classifications:
No ORPHAcode classification
No ICD-11 classification
IMPORTANT INFORMATION
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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.
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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
There may be special considerations for the emergency management of individuals living with TCF20-related disorder presenting to emergency departments.
Clinical Care Guidelines
We are not aware of any clinical care guidelines for TCF20-related disorder in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.
Synonyms
Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA)
Summary
TCF20-related disorder is a neurodevelopmental condition that is caused by genetic changes in the Transcription Factor 20 (TCF20) gene.1,2 This condition is also known as Developmental delay with variable intellectual impairment and behavioural abnormalities (DDVIBA).1,3 Features of TCF20-related disorder include, but are not limited to, developmental delay, intellectual disability, autism spectrum disorders, attention disorders and movement issues.1-8 Various organ systems may be affected, resulting in other health issues.2 The features and symptoms of TCF20-related disorder may vary widely between individuals.3
These genetic changes in the TCF20 gene typically occur randomly (de novo) before birth and are rarely inherited.1 TCF20-related disorder can affect both males and females.
Useful Links for Professionals
Personal Stories
TCF20-related disorder 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
Features and symptoms that have been reported in individuals with TCF20-related disorder include:1-8
- developmental delay/intellectual disability, including speech issues
- low muscle tone (hypotonia) but in some cases, high muscle tone (hypertonia)
- autism spectrum disorder (ASD)
- attention disorders
- movement issues, including loss of control of voluntary muscles (ataxia), poor balance, poor coordination, abnormal walking (gait disturbances), tremors, and difficulties in controlling and posturing of limbs (dystonia)
- seizures
- sleep disturbances
- gastrointestinal issues
- skeletal issues, including curvature of spine (scoliosis), flat feet (pes planus), deformities of chest (pectus) and feet
- issues with vision
- structural brain anomalies
- variable craniofacial anomalies
Symptoms may vary between individuals. Individuals with TCF20-related disorder may not have all the features and symptoms that have been listed above.
There may also be other features associated with TCF20-related disorder. Please speak to your medical team to learn more about the signs and symptoms of TCF20-related disorder.
Cause/Inheritance
TCF20-related disorder is a genetic condition, caused by genetic changes in the Transcription Factor 20 (TCF20) gene on Chromosome 22. These genetic changes may include single base changes (sequence variants), deletions and duplications of the TCF20 gene.1,2,4,6
Every individual has two copies (alleles) of the TCF20 gene – one on each chromosome. A genetic change in just one of the copies can result in TCF20-related disorder, which is an autosomal dominant condition.1
For most individuals with TCF20-related disorder, their genetic change in TCF20 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 TCF20 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 (are unaffected by the genetic change).1,2
If you would like to learn more about the inheritance and impact of TCF20-related disorder, 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
Diagnosis of TCF20-related disorder may be made by genetic testing.
Genetic testing may involve chromosomal microarray analysis (CMA) or exome or genome sequencing to identify genetic changes in the TCF20 gene.
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
Please speak to your medical team to learn more about the available diagnostic pathways for TCF20-related disorder.
Treatment
There is no curative treatment for TCF20-related disorder, but there are strategies to manage the symptoms. This involves a multidisciplinary medical team. Management strategies may include speech and language therapy, physiotherapy, occupational therapy and feeding therapy.3 Individuals may also be assessed and monitored for gastrointestinal issues, scoliosis (curved spine), issues with vision, and seizures.2,3
There may be other management strategies for the symptoms and complications associated with TCF20-related disorder. Please speak with your medical team to learn more about suitable management strategies. The strategies will depend on an individual’s specific symptoms.
Clinical Care
Healthcare professionals involved in the treatment of TCF20-related disorder may include general practitioners (GP), paediatricians, geneticists, neurologists, gastroenterologists, ophthalmologists, craniofacial surgeons, speech therapists, occupational therapists, physiotherapists, and behavioural therapists.3 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 TCF20-related disorder in Australia; there may not be any clinical trials currently available.
Information regarding clinical trials for TCF20-related disorder 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)
There are currently no known organisations for TCF20-related disorder in Australia. If you are aware of any relevant organisations in Australia, please let us know via the Contribute page. If you are interested in starting an Australian organisation, please see Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia.
Genetics Alliance Australia (GAA), Genetic Support Network of Victoria (GSNV) and Syndromes Without A Name (SWAN) Australia may be able to provide some support for families and individuals affected by an undiagnosed or rare genetic condition for which there is no disease specific organisation in Australia.
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
Further information on TCF20-related disorder can be found at Centre for Genetics Education: Facts about health conditions caused by changes in the TCF20 gene.
References
- OMIM®– Online Mendelian Inheritance in Man®. #618430 – Developmental delay with variable intellectual impairment and behavioral abnormalities; DDVIBA. Accessed 30 December 2024. https://www.omim.org/entry/618430
- Torti E, Keren B, Palmer EE, et al. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. Genet. Med. 2019; 21: 2036-2042. https://doi.org/10.1038/s41436-019-0454-9
- NSW Government. Centre for Genetics Education. Facts about health conditions caused by changes in the TCF20 gene. 4p. Updated November 2021. https://www.genetics.edu.au/PDF/TCF20_fact_sheet-CGE.pdf
- Schäfgen J, Cremer K, Becker J, et al. De novononsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. Eur. J. Hum. Genet. 2016; 24: 1739–1745. https://doi.org/10.1038/ejhg.2016.90
- Vetrini F, McKee S, Rosenfeld JA, et al. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019; 11(1):12. https://doi.org/10.1186/s13073-019-0623-0. Erratum in: Genome Med 2019; 11(1):16. https://doi.org/10.1186/s13073-019-0630-1
- Lévy J, Cogan G, Maruani A, et al. Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder. Clin. Genet. 2022; 101(3):364-370. https://doi.org/10.1111/cge.14099.
- Svorenova T, Romito LM, Colangelo I, et al. Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype. Parkinsonism Relat. Disord. 2022; 102:89-91. https://doi.org/10.1016/j.parkreldis.2022.07.026
- Prasun P, Vermeire K, Ferimer S. Dystonic Cerebral Palsy-Like Presentation Caused by a Novel TCF20 Variant. J. Mov. Disord. 2024; 17(3): 348-350. https://doi.org/10.14802/jmd.24007
Page Last Updated
29/01/2025 12:11