Rubinstein-Taybi syndrome is a genetic condition that is present from birth (congenital) and affects multiple body systems (multi-system). It is characterised by distinct facial features, short stature and differences in the distal limbs such as broad thumbs and broad big (first) toes. Individuals with Rubinstein-Taybi syndrome often have developmental delay and intellectual disability, with the severity varying between individuals. In Rubinstein-Taybi syndrome, an individual’s eyes, hearing, feeding, breathing, heart, kidney, and behaviour may also be affected. They may also have repeated infections and severe constipation.

Rubinstein-Taybi syndrome is caused by genetic changes (variants) in either the CREBBP gene on chromosome 16 or the EP300 gene on chromosome 22. In most cases, genetic change occurs randomly (de novo) rather than being inherited (passed down) from a parent.

Below on this page is some information about this condition as well as links to useful resources for Australians living with a rare disease.

Synonyms: RTS; RSTS; Rubinstein syndrome; Broad thumb-hallux syndrome ; Broad thumbs-halluces syndrome

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:783 Rubinstein-Taybi syndrome

ICD-11: LD2F.1Y Other specified syndromes with multiple structural anomalies, not of environmental origin

Rare diseases typically display a high level of symptom complexity. There is often a wide range of symptoms and the symptoms may vary between individuals in terms of its presentation, severity, duration and impact.

Symptoms of Rubinstein-Taybi syndrome can vary widely between individuals. Features of Rubinstein-Taybi syndrome include but not individuals may present with the following:

• distinct facial features such as microcephaly (abnormally small head), highly arched eyebrows, downslanted palpebral fissures (eyelids that slant downwards), broad nasal (nose) bridge, micrognathia (smaller/undeveloped lower jaw) and others
• Short stature (individuals are often shorter in height compared to peers)
• Skeletal abnormalities, such as thumbs and halluces (big/first toes) that are broad and can be angulated (at an angle)
• Eye anomalies
• Feeding difficulties and severe constipation
• Dental anomalies, such as talon cusps, which are projections/additional cusps that grows from the surface of the tooth
• Developmental delay
• Intellectual disability
• Undescended testes (cryptorchidism) in males
• Brain abnormalities that are detected by brain imaging, such as magnetic resonance imaging (MRI)
• Repeated infections

Individuals may also have hearing loss, breathing issues, sleep apnea, heart defects, kidney abnormalities and skin issues. Some individuals may also exhibit behaviours such as increased pain threshold, short attention span, being extremely friendly, repetitive behaviour, autistic-like behaviour, aggressive behaviour and self-injuring behaviour.

It has been reported that a small number of children with Rubinstein-Taybi syndrome, mainly those with an EP300 genetic variant, have repeated episodes of hyperinsulinemic hypoglycaemia (where their body produces too much insulin, resulting in low blood sugar).  There may be other features and complications of Rubinstein-Taybi syndrome that are not listed here.

Please speak to your medical team to learn more about the symptoms and complications of this condition.

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.

Rubinstein-Taybi syndrome is a genetic condition. It is caused by disease-causing genetic changes (variants) in either the CREBBP (on chromosome 16) or EP300 gene (on chromosome 22). These genetic variants can be single base changes (sequence variants / single letter changes in the genetic code), deletions, duplications or could be due to complex rearrangements of the chromosome. For more information on different types of genetic variants, please refer to Centre for Genetics Education: Types of genetic variation.

All individuals have two copies (alleles) of the CREBBP or EP300 gene – one on each chromosome that is inherited from each parent. Rubinstein-Taybi syndrome is an autosomal dominant condition, which means that having a genetic variant in just one of the CREBBP or EP300 gene copies can result in Rubinstein-Taybi syndrome.

For most individuals with Rubinstein-Taybi syndrome, their genetic variant in the CREBBP or EP300 gene occurs randomly (de novo) prior to birth and is not passed down (inherited) from their parents.

In very rare cases, the autosomal dominant genetic variant was inherited from an affected parent with mild symptoms or a parent who has the genetic change in some but not all of their cells (mosaicism). More information about autosomal dominant pattern and mosaicism can be found at:

• Centre for Genetics Education: Autosomal dominant inheritance
• Centre for Genetics Education: Mosaicism.

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

A timely diagnosis is critical for better patient outcomes, the provision of the best possible care and treatment options, access to services and support, increased reproductive confidence and the ability to participate in clinical trials.

Please speak to your medical team to learn more about the available diagnostic pathways for this condition.

There is currently no curative treatment for Rubinstein-Taybi syndrome. Treatment is targeted at managing symptoms (symptomatic management), maximising function and reducing complications. Management of Rubinstein-Taybi syndrome often involves a multidisciplinary care team and may include physiotherapy, occupational therapy, feeding therapy or tube feeding, hearing aids, as well as management of issues and complications related to the eye, genitourinary tract, heart, respiratory system, kidney, skin and others. Regular monitoring of individuals for common complications of Rubinstein-Taybi syndrome is recommended.

For those who have repeated episodes of hyperinsulinemic hypoglycaemia, early diagnosis and treatment of the hyperinsulinemic hypoglycaemia is important to prevent permanent brain damage. Hyperinsulinemic hypoglycaemia is a medical emergency and should be treated promptly.

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. For many rare diseases, treatment options may be limited. Participation in a clinical trial may provide access to new or emerging therapies.

Healthcare professionals involved in the care of individuals with Rubinstein-Taybi syndrome may include general practitioners (GP), paediatricians, geneticists, genetic counsellors, neurologists, gastroenterologists, cardiologists, ENT (ear, nose and throat) specialists, endocrinologists, nephrologists, urologists, ophthalmologists, physiotherapists, occupational therapists and others. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

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.

This may not be applicable to all rare diseases but for many, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness and is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. If this is relevant to you and you wish to find out more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

We are not aware of any clinical care guidelines for Rubinstein-Taybi syndrome in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

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:

• Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement – developed by an international group of clinical experts (within the framework of the European Reference Network ITHACA) together with national support groups dedicated to Rubinstein-Taybi syndrome; published in 2024.

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.

In addition, individuals, their parents, families and carers often develop extensive expertise on their specific rare disease. It is important to recognise that they can contribute valuable knowledge about their rare condition. Rare diseases often impact individuals differently, so it’s important to consider a person’s lived experience.

If you know of any relevant emergency management guidelines or information relevant to emergency care, please let us know via the Contribute page.

The following information 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:

• Orphananesthesia: Rubinstein-Taybi syndrome has anaesthesia recommendations for Rubinstein-Taybi syndrome and was published in 2018.

We are not aware of any registered organisations for Rubinstein-Taybi syndrome in Australia or internationally. If you know of any registered organisation/s supporting people living with Rubinstein-Taybi syndrome, please let us know via the Contribute page

Genetics Alliance Australia (GAA) 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 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.

Rubinstein-Taybi 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 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 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

Further information on Rubinstein-Taybi syndrome can be found at:

• Genetic and Rare Diseases (GARD) Information Center: Rubinstein-Taybi syndrome
• National Organization for Rare Disorders (NORD): Rubinstein-Taybi syndrome
• MedlinePlus Genetics: Rubinstein-Taybi syndrome

Orphanet: Rubinstein-Taybi syndrome

GeneReviews®: Rubinstein-Taybi syndrome

Online Mendelian Inheritance in Man, OMIM®: #180849 RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Online Mendelian Inheritance in Man, OMIM®: #613684 RUBINSTEIN-TAYBI SYNDROME 2; RSTS2

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.