Rubinstein–Taybi syndrome can also be referred to as broad-thumb hallux syndrome or simply Rubinstein syndrome. It is known to be a genetic disorder arising from the microdeletion of chromosome 16p3.3 and a mutation in E1A-bindig proteins. However, physicians and researchers have still not yet identified the pathogenesis of Rubinstein–Taybi syndrome. Another issue with identification is that this condition is similar in pathology to other genetic diseases such as Saethre-Chotzen syndrome and Cornelia de Lange syndrome.
Much like several other genetic illnesses, mortality rates and overall life expectancy will depend upon a number of ancillary factors. Let us examine these variables in greater detail.
The first factor to recognize is that Rubinstein–Taybi syndrome is not always easy to diagnose. The most common diagnostic method is based upon a clinical examination and the identification of specific symptoms. These include:
However, a correct cytogenetic diagnosis is said to occur only 65 per cent of the time. This may present a problem, for not recognising the condition at an early onset may have a dramatic effect upon treatment options and therefore, the life expectancy of the patient.
One of the major risks in terms of longevity revolves around the potential for the patient to develop heart abnormalities (such as enlarged chambers or an arrhythmia). Another pronounced concern is associated with the administration of anesthesia. Those suffering from Rubinstein–Taybi syndrome are particularly susceptible to aspiration when unconscious. Should the disease not be recognised, there is a chance that the individual could suffer from cardiac arrest or a similarly fatal deprivation of oxygen.
Kidney abnormalities may also occur from time to time. These can include enlarged organs and a heightened chance of developing kidney stones. While not necessarily fatal in and of themselves, any kidney issues can serve to exacerbate other problems such as those associated with the heart.
Rubinstein–Taybi syndrome may indirectly affect life expectancy through other conditions. For example, many patients have difficulty feeding themselves and receiving the proper amount of nutrition. Irritable bowel syndrome (IBS) and gastrointestinal issues could possibly lead to the decreased absorption of vitamins and minerals. This can be especially debilitating earlier in life or if the condition is not supervised properly.
Barring any severe cardiac or kidney issues, most of those who are diagnosed with Rubinstein–Taybi syndrome are associated with moderately long lifespans. Of course, this will depend upon how the disease is managed. Some of the options which can have a pronounced impact include (but may not necessarily limited to):
As the heart is specifically at risk, diet and exercise should be monitored. Other common diagnostic tools such as an ECG (electrocardiogram) can likewise help to discover any minor issues before they evolve into major problems. Portable heart monitors are now becoming increasingly common, as they are able to detect irregular rhythms and other abnormalities.
There is a significant amount of ongoing research in relation to Rubinstein–Taybi syndrome. As some of the genetic components have been positively identified, it is hoped that gene therapy will serve a more viable role in the future. Presently there is no known cure nor are there any drugs which can directly treat the disease itself.