Rubinstein-Taybi syndrome
Definition
Rubinstein-Taybi syndrome is a rare genetic disorder involving mental retardation, short stature, broad thumbs and great toes, and characteristic facial features. First described in 1963 by the American physicians Dr. Jack Rubinstein and Dr. Hooshang Taybi, over 550 cases have since been reported.
Description
The clinical picture of Rubinstein-Taybi syndrome (RSTS) is highly variable. The most prominent features include mental retardation, thumb and great toe abnormalities, and distinct facial characteristics.
Rubinstein-Taybi syndrome may also be referred to as broad-thumb-hallux syndrome or Rubinstein syndrome. The abbreviation for Rubinstein-Taybi syndrome is denoted "RSTS" or "RTS," although "RSTS" is preferred so as not to be confused with other syndromes such as
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