Rubinstein-Taybi syndrome: causes, symptoms, and treatment
During fetal development, our genes act in a way that orders the growth and formation of the different structures and systems that will configure a new being.
In most cases this development occurs in a standardized way through genetic information from the parents, but sometimes mutations occur in the genes that cause alterations in development. This gives rise to different syndromes, such as the Rubinstein-Taybi syndrome , of which we will see details below.
What is Rubinstein-Taybi syndrome?
Rubinstein-Taybi syndrome is a disease considered rare of genetic origin that occurs in approximately one in every hundred thousand births. It is characterized by the presence of intellectual disability, thickening of the thumbs of the hands and feet, slowed development, short stature, microcephaly and diverse facial and anatomical alterations, characteristics that are explored below.
Thus, this disease presents both anatomical (malformations) and mental symptoms. Let’s see what they are and how serious they are.
Symptoms linked to anatomical changes
In terms of facial morphology, it is not unusual to find eyes that are very far apart or hypertelorism, elongated eyelids, ogival palate , hypoplastic jaw (lack of development of the bones of the upper jaw) and other anomalies. In terms of size, as we have said before, it is very frequent that they are mostly short, as well as a certain level of microcephaly and bone maturity delay. Another easily visible and representative aspect of this syndrome is seen in hands and feet, with thumbs wider than usual and short phalanges.
About a quarter of people with this syndrome tend to have congenital heart defects , which should be monitored with special caution as they can lead to the death of the child. About half of those affected have kidney problems, and other problems in the genitourinary system (such as a forked uterus in girls or undescended one or both testicles in boys) are also common.
Dangerous anomalies have also been found in the airways, in the gastrointestinal system and in organs linked to nutrition that lead to feeding and breathing problems. Infections are frequent. Visual problems such as strabismus or even glaucoma are common, as well as otitis. They usually have no appetite during the first few years and may require the use of catheters, but as they grow up they tend to suffer from childhood obesity. On a neurological level, seizures can sometimes be observed, and they have a higher risk of suffering from different cancers.
Intellectual disability and developmental problems
The alterations produced by Rubinstein-Taybi syndrome also affect the nervous system and the developmental process . Slowed growth and microcephaly facilitate this.
People with this syndrome usually have 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 are usually unable to follow regular education and require special education.
The different developmental milestones also present a significant delay, starting to walk late and manifesting particularities even in the crawling stage. As regards speech, some of them do not develop this ability (in which case they should be taught sign language). In those who do, the vocabulary is often limited, but it can be stimulated and improved through education.
Sudden mood changes and behavioral disorders can occur, especially in adults.
A disease of genetic origin
The causes of this syndrome are genetic. Specifically, the cases detected have been mostly linked to the presence of deletions or loss of a fragment of the CREBBP gene on chromosome 16 . In other cases, mutations of the EP300 gene on chromosome 22 have been detected.
In most cases the disease appears sporadically, that is to say that despite being of genetic origin it is not usually an inherited disease but the genetic mutation arises during embryonic development. However, hereditary cases have also been detected , in an autosomal dominant manner.
Treatments applied
Rubinstein-Taybi syndrome is a genetic disease that has no curative treatment. The treatment is focused on palliation of the symptoms , correction of anatomical abnormalities through surgery and strengthening its capabilities from a multidisciplinary perspective.
At the level of surgery it is possible to correct deformities of the heart, eyes, hands and feet. Rehabilitation and physiotherapy, as well as speech therapy and different therapies and methodology that can support the acquisition and optimization of motor and language skills.
Finally, psychological support and support in acquiring basic life skills is essential in many cases. It is also necessary to work with families to provide them with support and guidance.
The life expectancy of those affected by this syndrome may be normal as long as the complications derived from its anatomical alterations, especially cardiac ones, are kept under control.
Bibliographic references:
- Ahumada, H.; Ramírez, J.; Santana, B. & Velásquez, S. (2003). A case of Rubinstein-Taybi syndrome. Radiological presentation. Medical record. Grupo Ángeles Servicios de Salud.
- Peñalver, A. (2014). Family and Rubinstein-Taybi Syndrome. A case study. Faculty of Medicine. University of Valladolid.
- Rubinstein, J. H., and Taybi, H. (1963). Broad thumbs and toes and facial abnormalities: a possible mental retardation syndrome. American Journal of Diseases of Children, 105(6), 588-608.