This syndrome was first described in 1963 by an American pediatrician, Jack Herbert Rubinstein, and Hooshang Taybi, an Iranian-American pediatric radiologist and is today known as Rubinstein-Taybi Syndrome 1. The condition described here is very similar but is caused by a different gene mutation.
This heritable condition has many features with a wide range of expression. The facial appearance is distinctive with a broad, round appearance and a beaked nose, small lower jaw and a pouty lower lip. The eyelashes are lush and the eyebrows highly arched and bushy. The smile is often described as 'grimacing'. The hard palate in the mouth can be high and narrow.
Among the most distinctive features are enlarged thumbs and great toes but this is not always present. Developmental delays, both physical and mental, are common and most patients have some degree of intellectual disability.
This is an autosomal dominant condition which could be passed directly from an affected parent with a 50% probability. In reality, most patients do not reproduce and most mutations are new.
The diagnosis is usually based on a team collaboration of pediatricians, geneticists, cardiologists, and morphologists. A full clinical evaluation is required to document all the clinical findings. The similarity to another type (Rubinstein-Taybi syndrome 1) requires gene studies to document the mutation.
No information regarding longevity and vision is available. There is no treatment for the condition.