A syndrome is a medical term for any combination of a number of symptoms or traits occurring together which characterize a specific condition. RTS is characterized by numerous physical features which were first described by Dr Jack H. Rubinstein and Dr. Hooshang Taybi in 1963. These features include: short stature, beaked nose, slightly malformed ears, a highly arched palate, antimongoloid slant of eyes, heavy or highly arched eyebrows, small head, broad thumbs and/or great toes. At times, the thumbs and/or great toes are angulated. Other common characteristics include a red flat birthmark on the forehead, hyperextensible joints, small tilted pelvis, and extra hairiness (hirsutism). Males with RTS usually have undescended testicles. Mental retardation is also associated with RTS. The range of intellectual handicap for individuals with RTS is extremely wide, ranging from mild to severe. Although it is known that the cause of RTS is genetic, the syndrome is not considered hereditary. The recurrence risk for a couple to have a second child with RTS is approximately 0.1%. RTS is not detectable before birth at this time because it is unclear exactly what causes RTS. Recent studies have pointed to a small deletion on chromosome 16, however, there is no definitive genetic test for RTS.
The diagnosis of RTS is generally made by noting physical characteristics through a medical and physical evaluation. Most children with RTS have a physical appearance which is different from the rest of their biological family. Rubinstein-Taybi Syndrome is evenly found in both the male and female population. The syndrome is considered rare and estimated to occur in about 1 in 100,000-300,000 births, depending on the population being studied. Because of the variations found in physical characteristics, medical problems, and mental abilities from one individual with RTS to another, some of the mild cases go undiagnosed. It is very common for a mildly affected person to be diagnosed as late as adolescence because the individual had no severe medical problems, extreme characteristics, or moderate or severe mental retardation. Because it is based on physical characteristics, the diagnosis may be more difficult to make when the individual is not caucasian.
Common problems after birth include feeding difficulties and poor weight gain, respiratory infections, ear infections, eye infections and abnormalities including tear duct obstruction, excess mucous, and sometimes diarrhea but usually chronic constipation. Eye problems, cardiac anomalies, vertebral abnormalities, gastroesophageal reflux and vomiting, kidney abnormalities, and orthopedic problems are also frequently found in individuals with RTS. Surgeons should be aware of the possible problems that some individuals with RTS have under anesthesia, such as altered cardiac rates and rhythms causing arrhythmias. Children with RTS are at a high risk for aspiration during anesthesia and an endotracheal tube is often recommended for general anesthesia. It should also be noted that there is a susceptibility to fungus infections of the fingernails and toenails, ingrown nails, and there is a tendency for keloid (raised scar) formation. Surgical correction of the angulated thumbs and toes is often beneficial.
Each child with RTS will develop at his or her own rate. Even though children with RTS do share similarities in appearance, behavior, medical problems, and personality, parents must remember that their child is an individual who will develop to his own potential. Infant Stimulation and Early Intervention is highly recommended for the child with RTS. Because speech is one of the slowest developmental areas for the child with RTS and because some of the children with RTS do not develop verbal speech, signing should be considered initially as a form of communication. Physical therapy and occupational therapy may help the child with his progress in reaching developmental milestones taken for granted in the "normal" child.
Contrary to what some medical reports say, individuals with RTS are usually very happy, social people. They love attention and know no strangers. They have an absorbing smile that has been described in reports as "grimacing", but in reality their smile radiates the love and acceptance that these children have for everyone around them. These children love to touch everything and like to manipulate electronic appliances, buttons, knobs and dials. They love books, water, people, and are very responsive to any form of music. The average child with RTS will learn to sit and crawl between 1-2 years and will learn to walk between 2-4 years. He will understand most of what is said to him but may be easily frustrated by not being able to express his needs or wants to others. He will require assistance and training in self-help areas, e.g. feeding, dressing, toileting, etc. Special education will be necessary for most individuals with RTS, with spurts of progress and achievements making all the hard work worthwhile. Many of the individuals with RTS work well one-on-one or in small structured groups. They seem to do well on a routine schedule and do not like large or loud groups or activities.