Rubinstein-Taybi Syndrome (click here now), also known as RSTe, is a genetic condition that affects the development of the bones and cartilage in the upper jaw. The condition can affect people of any ethnicity and age, but most often affects people of European descent. Common characteristics of this condition include broad great toothed hands, wide strong thumbs, mental retardation, and large rounded hands. Other common characteristics of RSTS include prominent facial features, i.e., arched eyebrows, large cheekbones; broad forehead; prominent maxillary sinus; and pronounced micrognathia, ie, a narrow chin. Some people also have facial asymmetry and other facial characteristics.
A diagnosis of RST can be made when an individual meets several criteria. The first criterion is that the individual must meet three or more of the following criteria. One of the criteria is that of craniofacial abnormality; i.e., if a person has one or more specific facial characteristics, it is possible that they are suffering from RSTs. Another criterion is the presence of high IQ in relation to chronological age. The third criterion is that of significant muscular weakness. If a person has these three criteria, then they may be suffering from RST. This condition may also result from the failure to respond properly to treatment for the RST.
People with RST may have an issue of early and progressive bone loss, which is known as osteoporosis. Bone loss may occur in both the bones and cartilage. In addition, they may also have an issue of decreased bone mass, which is known as osteopenia. Another common feature of RST is the occurrence of joint laxity, which is a condition in which the cartilage between bones do not have the proper elasticity to absorb shock during locomotion. This causes the bones to break, resulting in bone spurs. These spurs grow under the skin and form a bumpy area between the bones.
Rubinstein-Taybi Syndrome is also characterized by a lack of muscular coordination in the jaw and skull. It causes an abnormal increase in the size of the cerebellum. The cerebellum is part of the brain that is responsible for coordinating muscle movement. This can cause individuals to move their jaw muscles inappropriately and lose coordination.
Because of the above mentioned symptoms, there are likely many others that the patient may also suffer from such as facial asymmetry, a large nasal bridge, ear deformities, and an open bite. Other symptoms may include hearing loss or tinnitus, a flat nasal septum, and low self-esteem and low self-confidence. These symptoms are not limited to the face. They also may affect the ears and the eyes. If an individual has a history of thyroid problems or diabetes, they may also be predisposed to RST.
In many cases, it is possible that RST may be a genetic disorder. However, it is more likely to be a disorder caused by environmental factors. Genetic testing may help to determine whether an individual may have the condition or not. Because of the high frequency of genetic abnormalities associated with this condition, it is extremely important that individuals seeking RST information should seek genetic counseling and medical attention.