Rubinstein-Taybi syndrome (RSTS)

Rubinstein-Taybi Syndrome OMIM #180849
*This composite image of Rubinstein-Taybi syndrome was created to help geneticists get a better analysis

What is Rubinstein-Taybi syndrome?

Rubinstein-Taybi syndrome is a very rare genetic condition and occurs in anywhere between 1 in 100-300,000 live births. It occurs in males and females equally.

Health conditions associated with Rubinstein-Taybi syndrome vary considerably between individuals with the syndrome and also vary in severity between individuals. These health conditions usually include broad thumbs and first toes, developmental delay and intellectual disability, characteristic facial features, and possible cardiac and respiratory problems.

Also known as Rubinstein syndrome; Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation; Broad Thumb-Hallux syndrome

What gene change causes this syndrome?

Rubinstein-Taybi syndrome occurs, in 50-60% of cases, due to pathogenic variants in the CREBBP gene. In the remainder of cases, mutations in EP300 are believed to be the cause. The syndrome occurs randomly and is not generally inherited.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Rubinstein-Taybi syndrome?

  • The main symptoms of Rubinstein-Taybi syndrome vary considerably between individuals and may also vary in the extent of their severity.
  • Common symptoms include broad thumbs and 1st toes and downward slanted eyes, widely-spaced eyes, high arched eyebrows, droopy eyelids, and long eyelashes. Frequent eye infections are another common symptom of the syndrome.
  • Mild to severe intellectual disability and developmental delay is also characteristic of Rubinstein-Taybi syndrome. There are associations between the syndrome and a higher risk of a diagnosis for autism, ADHD, and other impulse-associated disorders.
  • Some possible but not necessarily exclusive symptoms include short stature, small head and jaw, a high arched palate, excessive hairiness, as well as potential cardiac and respiratory problems.

How is it diagnosed?

To find out if someone has a diagnosis of Rubinstein-Taybi, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

Share this syndrome

Rubinstein-Taybi Syndrome OMIM #180849
*This composite image of Rubinstein-Taybi syndrome was created to help geneticists get a better analysis

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Read more