Rubinstein-Taybi Syndrome

Rubinstein-Taybi syndrome (RTS) is a rare developmental disorder that was first identified in 1958 by three Greek orthopedic surgeons: J. Michail, J. Matsoukas, and S. Theodorou. In 1963, Jack Rubinstein and Hooshang Taybi, medical doctors from the United States, published the first case series of seven individuals with the syndrome. This arose after Rubinstein and Taybi assessed two children with intellectual disability who had a similar facial appearance and, importantly, unusually broad thumbs and big toes. They circulated the clinical profile to their colleagues, and a further five children were discovered. The syndrome is also known as broad thumb–hallux syndrome because of these defining characteristics.

Fifty years after the discovery of RTS, it was estimated that between one in 100,000 and one in 125,000 individuals have ...

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