Rubinstein Taybi syndrome
|Rubinstein Taybi syndrome|| |
Glossaries - Disabilities
Glossaries Description -
An A to Z glossary of disabilities
Also known as RTS, Rubinstein Taybi syndrome is a condition which can affect physical appearance and intelligence.
Those with Rubinstein Taybi syndrome can be born with distinctive facial features, oversized thumbs and toes as well as a degree of a learning disability.
The condition is caused by the mutation in the EP300 or CREBBP gene or a small loss of genetic material from the chromosome 16 which represents around 3% of the total DNA in cells.
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