An Overview of Rubinstein-Taybi Syndrome

Rubinstein-Taybi syndrome is a congenital condition which primarily causes short stature, intellectual disability, and other health problems. This is a rare genetic disease which is present in approximately 1 in 100,000 to 125,000 children. Mild cases of this disorder are treated with supportive care and addressing any specific deficits. Infants are monitored closely for medical complications. However, severe cases of Rubinstein Taybi Syndrome cause failure to gain weight, along with severe and frequent infections. In these instances, infants rarely survive past early childhood.

Symptoms

Rubinstein-Taybi syndrome may cause a variety of symptoms. The main physical symptoms include short fingers and toes, broad thumbs and first toes, a beaked nose, slanted eyes, an elevated palate, wide-set eyes, a small skull, short stature, and thick eyebrows with a prominent arch. Additional symptoms related to development are slowed development of motor skills, seizures, gastrointestinal issues such as constipation and bowel disorders, and intellectual disabilities ranging from moderate to severe.

Other symptoms which are less common include hypermobile joints, anxiety disorders, attention deficit disorders, deafness, autism spectrum disorder, extra teeth, and atrial septal defects (also known as a hole in the heart). Some individuals with Rubinstein-Taybi syndrome may have an absent or extra kidney, cataracts and other vision problems, and underdeveloped genitals. Individuals with Rubinstein-Taybi syndrome also have an increased risk for the formation of cancerous and benign tumors. This is believed to be due to mutations governing cell reproduction and growth.

Causes

Causes of Rubinstein-Taybi Syndrome are mutations in the CREBBP or EP300 genes. Type 1 of the condition results from a mutation in the EP300 gene, whereas Type 2 of the condition results from a mutation in the CREBBP gene. 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 proteins in cells. Such proteins play a large role in the development of many bodily structures, which is what results in the range of physical features affected by this condition.

Approximately half of Rubinstein-Taybi syndrome diagnoses have no known cause. Other gene mutations, yet to be identified by research, may be responsible in these cases.

Despite the genetic involvement which plays a role in the development of Rubinstein-Taybi syndrome, this condition is usually not passed down from parent to child. Rather, these genetic mutations are spontaneous in the genetic makeup of the child. The pattern is autosomal dominant, so it only takes a defect in one of the pairs of genes or one of the pair of chromosome 16 to result in the syndrome.

Diagnosis

A diagnosis of Rubinstein Taybi syndrome is made through genetic testing, which confirms the gene mutations. This complements a physical examination where a doctor records abnormal physical features of an infant and the symptoms he or she is experiencing. A doctor will also review medical history, family history, and complete laboratory tests to gain a full picture of the infant’s circumstances.

Despite the apparent nature of some facial features demonstrated, genetic testing for Rubinstein-Taybi syndrome and other congenital disorders remains difficult.

Treatment

Rubinstein-Taybi syndrome is treated by addressing the medical issues caused by the condition to ensure they do not evolve into life-threatening complications. 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.

Behavioral specialists, occupational therapists, speech therapists, and physical therapists are healthcare professionals who are all able to assist with self-care deficits, developmental delays, speech deficits, and difficulty walking.

Children who experience heart defects will likely undergo corrective surgeries. Ophthalmologists assist children with abnormalities which cause vision problems. Neurologists often provide treatment for children with hearing loss and other forms of deafness, as what is called a cochlear implant may be placed. A cochlear implant improves the brain’s connection with the ears to allow for improved or fully present hearing.

The presence of additional medical problems also indicates whether an infant’s prognosis is good or bad. Life expectancy is often not impacted by this condition, but children with severe cardiac issues, development of cancerous tumors, and increased risk for frequent infections typically have a much shorter life expectancy than other children experience.

Coping

Coping with Rubinstein-Taybi syndrome is similar to that of most other intellectual disabilities. It is important to provide your child with services which will improve his or her quality-of-life and developmental progression. Services such as occupational therapy, speech therapy, and physical therapy all assist with building functional skills despite the deficits your child experiences. These rehabilitation professionals will strengthen the body in the presence of your child’s condition. Additionally, these therapists will also assist with managing behaviors your child may experience as the result of psychological conditions such as anxiety disorder, autism spectrum disorder, and attention-deficit disorders.

A Word From Verywell

Coping with any developmental disorder is difficult for both the child and those involved in his or her care. Support groups not only assist with a caregiver’s ability to cope for a child with Rubinstein-Taybi syndrome, but also to assist a child in dealing with their condition. This may be more useful for an adult with this condition, however, any degree of support and community resources will assist in living the fullest life possible with this diagnosis.

If you have specific concerns about your child’s development or medical complications related to Rubinstein-Taybi syndrome, consult your child’s doctor. A medical doctor will be able to make appropriate referrals to specialists, surgeons, therapists, and make appropriate community referrals.