Table of ContentsView AllTable of ContentsSymptoms and FeaturesCauseGenetic Testing for DiagnosisTreatment and Life ExpectancyHow to Cope
Table of ContentsView All
View All
Table of Contents
Symptoms and Features
Cause
Genetic Testing for Diagnosis
Treatment and Life Expectancy
How to Cope
Rubinstein-Taybi syndrome is a congenital (from birth) condition that primarily causes short stature, intellectual disability, and other health problems. 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. 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.
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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, andatrial septal defects(also known as a hole in the heart). Some individuals with Rubinstein-Taybi syndrome may have an absent or extra kidney,cataractsand 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.
Is RTS Hereditary?
The causes of Rubinstein-Taybi Syndrome are genetic mutations, including 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.
Despite the genetic involvement that 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.
How Genetic Disorders Are Inherited
A diagnosis of Rubinstein-Taybi syndrome is made throughgenetic testing, which confirms the gene mutations. This complements a physical examination where a healthcare provider records atypical physical features of an infant and the symptoms they are experiencing. A healthcare provider 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.
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 that cause vision problems.
Neurologists often provide treatment for children with hearing loss and other forms of deafness—they may place what is called a cochlear implant. Acochlearimplantimproves the brain’s connection with the ears to allow for improved or fully present hearing.
Coping with Rubinstein-Taybi syndrome is similar to that of most other intellectual disabilities. It is important to provide your child with services that 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.
Support groups can assist with a caregiver’s ability to care for a child with Rubinstein-Taybi syndrome, as well as help the 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.
Summary
There is no specific treatment for Rubinstein-Taybi syndrome, but healthcare providers can address related medical issues, such as hearing or heart conditions. 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. If you have specific concerns about your child’s development or medical complications related to Rubinstein-Taybi syndrome, consult your child’s healthcare provider. They will be able to make appropriate referrals to specialists, surgeons, therapists, or make appropriate community referrals.
3 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.U.S. National Library of Medicine.Rubinstein-Taybi Syndrome.Milani D, Manzoni FM, Pezzani L, et al.Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.Ital J Pediatr.41:4. 20 January 2015. doi:10.1186/s13052-015-0110-1National Center for Advancing Translational Sciences.Rubinstein-Taybi syndrome.Additional ReadingMedlinePlus.Rubinstein-Taybi syndrome.
3 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.U.S. National Library of Medicine.Rubinstein-Taybi Syndrome.Milani D, Manzoni FM, Pezzani L, et al.Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.Ital J Pediatr.41:4. 20 January 2015. doi:10.1186/s13052-015-0110-1National Center for Advancing Translational Sciences.Rubinstein-Taybi syndrome.Additional ReadingMedlinePlus.Rubinstein-Taybi syndrome.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
U.S. National Library of Medicine.Rubinstein-Taybi Syndrome.Milani D, Manzoni FM, Pezzani L, et al.Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.Ital J Pediatr.41:4. 20 January 2015. doi:10.1186/s13052-015-0110-1National Center for Advancing Translational Sciences.Rubinstein-Taybi syndrome.
U.S. National Library of Medicine.Rubinstein-Taybi Syndrome.
Milani D, Manzoni FM, Pezzani L, et al.Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.Ital J Pediatr.41:4. 20 January 2015. doi:10.1186/s13052-015-0110-1
National Center for Advancing Translational Sciences.Rubinstein-Taybi syndrome.
MedlinePlus.Rubinstein-Taybi syndrome.
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