During the development of the fetus, our genes act in an orderly way the growth and formation of the different structures and systems that will form a new being.
In most cases, this development occurs in a standardized way using genetic information from the parents, but sometimes mutations occur in genes that cause developmental alterations. This gives rise to different syndromes, such as Rubinstein-Taybi syndrome, Which we will see its details below.
What is Rubinstein-Taybi Syndrome?
Rubinstein-Taybi syndrome is a disease considered to be rare of genetic origin which occurs in about one in a hundred thousand births. It is characterized by the presence of intellectual disability, thickening of the thumbs of the hands and feet, slower development, short stature, microcephaly, and various facial and anatomical alterations, features which are explored below.
Thus, this disease presents both anatomical (malformations) and mental symptoms. Let’s see what they consist of and how serious they are.
Symptoms related to anatomical alterations
In terms of facial morphology it is not uncommon to find very separated eyes or hypertelorism, elongated eyelids, arched palate, Hypoplastic jaw (lack of bone development in the upper jaw) and other abnormalities. In terms of size, as we said above, it is very common for them to be predominantly large, as well as some level of microcephaly and delayed bone maturation. Another easily visible and representative aspect of this syndrome is seen in the hands and feet, with wider thumbs than usual and short phalanges.
About a quarter of people with this syndrome they tend to suffer from congenital heart defects, Which should be monitored with special caution as they can result in the death of the child. About half of those affected have kidney problems, and it is also common for them to have other problems in the genitourinary system (such as the bifid uterus in girls or the failure of one or both of them. testicles in boys).
They were also found dangerous abnormalities of the respiratory tract, gastrointestinal system and in the organs related to nutrition which lead them to feeding and breathing problems. They often have infections. Visual problems such as strabismus or even glaucoma are common, as is ear infection. They are usually not hungry for the first few years and may require the use of catheters, but as they grow older they tend to suffer from childhood obesity. At the neurological level, seizures can sometimes be observed, and they present a higher risk of suffering from various cancers.
Intellectual disability and problems during development
Alterations caused by Rubinstein-Taybi syndrome they also affect the nervous system and the development process. Slower growth and microcephaly facilitate this fact.
People with this syndrome they usually have a moderate intellectual disability, With an IQ between 30 and 70. This degree of disability may enable them to acquire the ability to speak and read, but they generally cannot attend regular education and need special education.
The various development milestones also they have a significant delay, starting to walk late and exhibiting peculiarities even at the exploration stage. As for speech, some of them do not develop this ability (in this case, they have to learn sign language). In those who do, the vocabulary is usually limited, but can be stimulated and improved by education.
Sudden mood swings and behavioral disturbances can occur, especially in adults.
A disease of genetic origin
The causes of this syndrome are genetic. More specifically, the cases detected were mainly linked to the presence of deletions or loss of a fragment of the CREBBP gene on chromosome 16. In other cases, mutations in the EP300 gene have been detected on chromosome 22.
In most cases, the disease appears sporadically, that is, despite being genetic in origin, it is usually not an inherited disease but the genetic mutation occurs during the Embryonic development. However hereditary cases have also been detected, Autosomal dominant.
Rubinstein-Taybi syndrome is a genetic disease without a cure. Treatment focuses on relieving symptomsCorrect anatomical anomalies by surgery and improve their capacities from a multidisciplinary perspective
At the level of surgery, it is possible to correct the deformities heart, eye and hand and foot. Rehabilitation and physiotherapy, as well as speech therapy and various therapies and methodologies that can support the acquisition and optimization of motor and language skills.
Finally, psychological support and the acquisition of basic life skills are essential in many cases. It is also necessary to work with families to provide support and guidance.
The life expectancy of people affected by this syndrome may be normal as long as the complications resulting from their anatomical alterations are under control, particularly in the heart.
- Ahumada, H .; Ramirez, J .; Santana, B. and Velásquez, S. (2003). A case of Rubinstein-Taybi syndrome. Radiological presentation. Medical file. Angeles Health Services Group.
- Peñalver, A. (2014). Family and Rubinstein-Taybi syndrome. A case study. Medical School. University of Valladolid.
- Rubinstein, JH and Taybi, H. (1963). Large thumbs and fingers and facial abnormalities: a possible mental retardation syndrome. American Journal of Childhood Illnesses, 105 (6), 588-608.