This syndrome was first described in 1963 by an American pediatrician, Jack Herbert Rubinstein, and Hooshang Taybi, an Iranian-American pediatric radiologist. Another condition, Rubinstein-Taybi Syndrome 2, described more recently, has many similar features.
This heritable condition has many features that have a wide range of expression. The facial appearance is distinctive with a broad, round appearance and a beaked nose, small lower jaw and a pouting lower lip. The ears appear to be rotated towards the back of the head, the eyelashes are lush and the eyebrows highly arched and bushy. The smile is often described as 'grimacing'. The palate in the mouth can be high and narrow while the teeth are crowded with a deficient enamel coat. They may be abnormal in number as well.
The eyes may have glaucoma and cataracts. Crossing of the eyes is common and many patients are near-sighted. In spite of evidence of changes in the optic nerves and the retinas of the eye, many patients have near normal vision. Only about 20% have a visual handicap.
Among the most distinctive features are enlarged thumbs and great toes. Bone fractures and dislocation of the kneecaps are sometimes seen in young people. Cardiac and kidney problems are common and most males have undescended testes. There is an increased risk of tumor formation, both benign and malignant. Developmental delays, both physical and mental, are common and some patients are mentally retarded. Many individuals are short in stature.
The mode of inheritance is generally considered to be autosomal dominant although few patients reproduce.
Features of this syndrome are usually evident at birth and the diagnosis is often made by a pediatrician. Cardiologists, ophthalmologists and orthopedists may also play a role in the diagnosis. Severe cases may not live beyond the second decade while others live to adulthood. Treatment is directed at correction of specific defects such as glaucoma, strabismus, fractures, tumors, and cardiac abnormalities.