Rubinstein-Taybi Syndrome original post here is a rare inherited disorder characterized by low stature, average intelligence, severe short stature, unusual facial characteristics, and relatively broad hands and feet. It also includes the characteristic signs and symptoms of other conditions related to the human nervous system and brain, including multiple myeloma and spinal cord tumors. The symptoms of Rubinstein-Taybius syndrome, however, can resemble those of other diseases as well. This article provides an overview of Rubinstein-Taybius Syndrome. Additional information on this condition and other conditions related to the nervous system and brain can be found in “Rubinstein-Taybius Syndrome: An Overview.”
Rubinstein-Taybius syndrome was first described by Albert E. Rubenstein at the Institute for Medical Research in St. Petersburg, Russia. His observations were based on the autistic child. Rubinstein was one of the first researchers to recognize that the autistic child with short stature had abnormalities in the areas of the brain responsible for speech and language. Because children with Rubinstein-Taybius syndrome also often have some degree of autism, Rubinstein’s observations have been validated as a useful tool in diagnosing this condition.
Rubinstein-Taybius syndrome manifests in infancy and childhood; however, it has also been linked to autism in adults. Rubinstein’s disease affects approximately one percent of children, although research suggests that the number may be greater. When left untreated, Rubinstein’s syndrome can result in permanent physical, mental, or developmental disabilities and death.
Rubinstein’s disease is caused by the inherited genetic defect in the Rubinstein-Gavril protein (RGP). RGP is an enzyme which is essential for normal brain cell growth. Rubinstein’s disease is caused when the RGP gene is damaged. When a healthy RGP is replaced with an abnormal one, the normal cells are either killed or do not divide, resulting in abnormally small brains. Rubinstein’s syndrome may lead to intellectual disability and short stature. It has no effect on healthy adults, although men are three times as likely to get the disease as women. In men, Rubinstein’s syndrome is linked to a higher risk of heart attack and stroke.
Rubinstein’s syndrome may cause problems with the blood vessels and the brain’s neurotransmitters. Rubinstein’s syndrome may also cause hearing loss and other psychological problems, including depression, anxiety, mood swings, social withdrawal, and depression, irritability, insomnia, irritability, impulsiveness, aggressiveness, lack of self confidence, and aggression.
Rubinstein’s syndrome is associated with a number of disorders and illnesses related to the nervous system and the brain. To date, research has failed to identify a cure for this disorder. However, certain medications and therapies can help to alleviate some of the symptoms and prevent further deterioration. Individuals with Rubinstein’s syndrome should be tested regularly for potential symptoms.