About RTS

Rubinstein-Taybi syndrome refers to a specific pattern of physical features and developmental disabilities which occur together in a consistent fashion. Individuals with Rubinstein-Taybi syndrome have short stature, developmental delay, similar facial features, and broad thumbs and first toes. The condition was first described in 1963 by Dr. Jack Rubinstein and Dr. Hooshang Taybi who recognized this pattern in seven unrelated children. Since 1963, there have been over 400 individuals reported with the Rubinstein-Taybi syndrome. Although the exact incidence is unknown, it has been estimated that approximately 1 out of 300,000 persons has the Rubinstein-Taybi syndrome. The condition occurs with equal frequency in males and females.
Most children with Rubinstein-Taybi syndrome have a physical appearance which is different from that of their family background at the time of birth. The average age at the time of diagnosis of Rubinstein-Taybi syndrome is approximately 15 months. It is often difficult to be certain of the diagnosis at birth, and many children are not recognized for several months or even years. The facial features include a small head size, thick scalp hair which may extend onto the forehead, down-slanting eyes, prominent nose, small mouth, and a high-arched palate. Additionally, the thumbs and first toes are broad and sometimes angulated. Many of these physical characteristics have little significance other than as clues for the diagnosis. The features may not be obvious to family members or friends, but should allow the diagnosis of Rubinstein-Taybi syndrome to be made by a specialist in clinical genetics and often by a pediatrician.
The cause of Rubinstein-Taybi syndrome is unknown. A chromosome abnormality has not been identified in this condition. However, it is possible that there is a spontaneous change (mutation) in a gene which is too small to be detected by chromosome analysis. There have been no consistent chemical or other environmental exposures reported during pregnancy. There is no reason to believe that anything the parents did or did not do during the pregnancy caused the child to have Rubinstein-Taybi syndrome. Additionally, no definite genetic pattern has been identified.
In almost all cases, there are no other family members with the Rubinstein-Taybi syndrome. There have been seven reports of familial occurrence in the medical literature, however, most are poorly documented or the descriptions have been incomplete. Of these, two are fairly well documented familial cases, one in which a brother and sister both have Rubinstein-Taybi syndrome, and one in which a mother and son both have the condition. Based on the small number of recurrences in families, the risk to have a second child with Rubinstein-Taybi syndrome is probably less than 1%. However, the risk for a person with Rubinstein-Taybi syndrome to have an affected child is probably much higher, possibly as high as 50%. At the present time, there is no way to test a baby prenatally (before birth) to see if he/she has the condition.
Information by Dr. Cathy A. Stevens in collaboration with Dr. John Carey. Taken from www.rubinstein-taybi.com.