What Is Rubinstein-Taybi Syndrome?

Rubinstein-Taybi Syndrome (RTS)

Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder that affects many parts of the body. This disorder is named after the doctors who first described it in 1963, Dr. Jack Rubinstein and Dr. Hooshang Taybi.

What causes Rubinstein-Taybi Syndrome?

Changes or mutations in the CREB-binding protein (CREBBP) gene and, less commonly, the EP300 gene cause RTS. These genes provide instructions for making proteins that play a role in the regulation of gene activity and other essential cellular functions. Changes in these genes can disrupt these functions, leading to the characteristic features of RTS.

What are the symptoms of Rubinstein-Taybi Syndrome?

RTS affects many different parts of the body and its features can range from mild to severe. Some of the common features of RTS include:

- Broad thumbs and big toes

- Short stature

- Broad or beaked nose

- Wide-set eyes

- Down-slanting palpebral fissures (openings of the eyelids)

- Overlapping toes (usually the second and third toes)

- Delayed speech and language development

- Intellectual disability

- Behavioral problems

How is Rubinstein-Taybi Syndrome diagnosed?

RTS is usually diagnosed based on a person's physical features, symptoms, and a genetic test. The genetic test looks for changes or mutations in the CREBBP or EP300 gene.

How is Rubinstein-Taybi Syndrome treated?

There is no cure for RTS, but there are treatments to manage the symptoms of the disorder. Treatment for RTS may involve physical therapy, occupational therapy, speech therapy, special education, and behavioral therapy.

What is the prognosis for Rubinstein-Taybi Syndrome?

The prognosis for RTS can vary depending on the severity of the disorder. With proper medical care and support, individuals with RTS can often lead full and productive lives.