What is Rubinstein-Teybi syndrome?

Rubinstein-tay syndrome is a rare genetic state that causes the affected person to have a shorter than a normal figure, different physical deformities and a certain degree of mental retardation. It is assumed that this health condition is caused by the mutation of one of the genes responsible for the production of the type of binding protein necessary for proper cell growth and division. Most cases of Rubinstein-Teybi syndrome develop as a result of a new genetic mutation, although in rare cases the condition may be inherited. Although there is no specific treatment of this disorder, the individual symptoms are treated as needed. Any questions or concerns about the Rubinstein-Taybi syndrome or the possibilities of individualized treatment should be discussed with a physician or other doctor. This condition usually involves the presence of significant facial functions exclusive for this disorder and tpalka or large fingers can be wider than usual. A short figure commonly associated with this condition is obvious at the time of birth and the newborn can have a lot aboveBy the body's body. Some cognitive or developmental problems that are common in persons with Rubinstein-Tayy syndrome may not be diagnosed until the child is slightly older.

In some cases, a child born with this syndrome may develop a disorder of seizures or can be plagued by a chronic constipation. Cardiac defects are present in a significant number of patients with Rubinstein-Tey syndrome and these defects are often sufficiently serious to require surgical intervention. The severity of the mental challenges that affect these patients usually become obvious, as expected to be omitted by developmental milestones. Most people born with this disorder will not be able to function at higher than at elementary school. Cognitive therapy and speech therapy is often successful in helping the patient to function the highest level.

The presence of Rubinstein-Taybi syndrome carries an increased riskIce, such as loss of kidney function, feeding problems and hearing loss. There is also a significant risk of developing certain cancers, including lymphoma and leukemia, among those who have this condition. The patient must be carefully monitored by a physician in order to diagnose and treat any potential complications as soon as possible. Surgery can be used to treat physical or cosmetic abnormalities, although this type of invasive treatment is not always necessary.