It is a rare genetic disease present in approximately 1 in 100,000 to 125,000 people born.
Mild cases of this disorder are treated with supportive care and addressing any specific deficits.
Infants are monitored closely for medical complications.
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Severe cases of Rubinstein-Taybi Syndrome may cause failure to gain weight, along with severe and frequent infections.
In these instances, infants rarely survive past early childhood.
This article will discuss the symptoms and features of Rubinstein-Taybi syndrome.
It also addresses the causes, diagnosis, and treatment of the condition.
Symptoms and Features
Rubinstein-Taybi syndrome may cause a variety of symptoms.
Is RTS Hereditary?
Some people are missing these genes entirely because of deletions of the short arm of chromosome 16.
In these instances where the gene is entirely missing, a severe case of Rubinstein-Taybi syndrome results.
The genes involved in this condition govern the formation of specific proteins in cells.
Rather, these genetic mutations are spontaneous in the genetic makeup of the child.
This being said, there is no specific treatment for Rubinstein-Taybi syndrome.
Common medical treatments involve surgery to repair or modify deformities of the fingers and toes.
This often relieves pain and improves the function of the hands and feet.
On average, they learn to walk by age 2 1/2.
Children who experience heart defects will likely undergo corrective surgeries.
Ophthalmologists assist children with abnormalities that cause vision problems.
Acochlearimplantimproves the brains connection with the ears to allow for improved or fully present hearing.
The presence of additional medical problems also indicates whether an infants prognosis is good or bad.
How to Cope
Coping with Rubinstein-Taybi syndrome is similar to that of most other intellectual disabilities.
These rehabilitation professionals will strengthen the body in the presence of your childs condition.
It’s due to genetic mutations that are typically spontaneous rather than passed down from the parent.
Genetic testing can confirm the diagnosis.
Most children with Rubinstein-Taybi syndrome have a normal life expectancy.
Coping with any developmental disorder is difficult for both the child and those involved in their care.
U.S. National Library of Medicine.Rubinstein-Taybi Syndrome.
20 January 2015. doi:10.1186/s13052-015-0110-1
National Center for Advancing Translational Sciences.Rubinstein-Taybi syndrome.
