History and Prevalence of Rubinstein-Taybi Syndrome
Prevalence
Rubinstein-Taybi Syndrome is a rare genetic syndrome that affects males and females equally.
Most research has reported on Caucasian individuals with Rubinstein-Taybi Syndrome but the syndrome does affect individuals from different ethnic groups.
The estimated prevalence of Rubinstein-Taybi Syndrome is 1 case in every 100,000 to 125,000 live births.
History
In 1958, three Greek surgeons, Michail, Matsoukas and Theodorou identified Rubinstein-Taybi Syndrome.
The syndrome is named after two doctors, Jack Rubinstein and Hooshang Taybi that were the first to publish research describing seven individuals with Rubinstein-Taybi Syndrome.
This research emerged because Rubinstein and Taybi assessed two individuals with intellectual disability and physical characteristics such as facial features and broad thumbs and toes, that we now know to be defining features of Rubinstein-Taybi syndrome. An extra five individuals were identified with a similar profile from the doctors’ colleagues.