What Is Rubinstein-Taybi Syndrome?

Rubinstein-Taybi syndrome is a rare genetic condition that causes the affected person to have a shorter than normal stature, various physical deformities, and some degree of mental retardation. This medical condition is believed to be caused by a mutation of one of the genes responsible for producing a type of binding protein essential for proper cell growth and division. Most cases of Rubinstein-Taybi syndrome develop due to a new genetic mutation, although in rare instances the condition may be inherited. Although there is no specific treatment for this disorder, individual symptoms are treated as necessary. Any questions or concerns about Rubinstein-Taybi syndrome or individualized treatment options should be discussed with a doctor or other medical professional.

Some of the physical symptoms of Rubinstein-Taybi syndrome are readily noticeable at the time of birth. This condition normally involves the presence of distinctive facial features exclusive to this disorder, and the thumbs or big toes may be broader than normal. The short stature commonly associated with this condition is obvious at the time of birth as well, and the newborn may have a lot of excess body hair. Some of the cognitive or developmental issues that are common among those with Rubinstein-Taybi syndrome may not be diagnosed until the child is a little older.

In some cases, a child born with this syndrome may develop a seizure disorder or may be plagued by chronic constipation. Heart defects are present in a significant number of patients with Rubinstein-Taybi syndrome, and these defects are often severe enough to require surgical intervention. The severity of the mental challenges affecting these patients usually becomes obvious as expected developmental milestones are missed. Most people born with this disorder will not be able to function at higher than an elementary school level. The combination of cognitive therapy and speech therapy is often successful in helping the patient function at as high of a level as possible.

The presence of Rubinstein-Taybi syndrome carries an increased risk of developing complications 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 with this condition. The patient must be closely monitored by a doctor so that any potential complications can be diagnosed and treated as early as possible. Surgery may be used to treat physical or cosmetic abnormalities, although this type of invasive treatment is not always necessary.