This disease produces both physical and mental alterations in newborns.
During fetal development, our genes act in a way that they order the growth and formation of the different structures and systems that will configure a new being.
In most cases, this development occurs in a normalized way through genetic information from the parents, but sometimes mutations occur in genes that cause alterations in development. This gives rise to different syndromes, such as Rubinstein-Taybi syndrome, of which we will see the details below.
What is Rubinstein-Taybi syndrome?
Rubinstein-Taybi syndrome is considered a rare disease of genetic origin that occurs in approximately one in every one 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 various 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 what their severity is.
Symptoms linked to anatomical alterations
At the level of facial morphology, it is not uncommon to find widely separated eyes or hypertelorism, elongated eyelids, pointed palate, hypoplastic maxilla (lack of development of the bones of the upper jaw) and other anomalies. Regarding size, as we have said previously, it is very common that they are mostly short, as well as a certain level of microcephaly and bone maturation delay. Another of the easily visible and representative aspects of this syndrome is seen in the hands and feet, with wider than usual thumbs and with short phalanges.
Around a quarter of people with this syndrome tend to suffer from congenital heart defects, which must be monitored with special caution as they can lead to the death of the minor. About half of those affected have kidney problems, and other problems in the genitourinary system are also common (such as a bifid uterus in girls or the non-descent of one or both testicles in boys).
Dangerous abnormalities have also been found in the respiratory tract, gastrointestinal system, and nutrition-related organs that lead to feeding and breathing problems. Infections are common. Visual problems such as strabismus or even glaucoma are common, as well as otitis. They do not usually have an appetite during the first years and the use of tubes may be required, but as they grow they tend to suffer from childhood obesity. At the neurological level , seizures can sometimes be observed , and they have a greater 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 development process. Stunted growth and microcephaly facilitate this.
People with this syndrome usually have moderate intellectual disability, with an IQ of between 30 and 70. This degree of disability may allow them to acquire the ability to speak and read, but they generally cannot 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 for speech, some of them do not develop this ability (in which case they must be taught sign language). In those that do, the vocabulary is usually limited, but can be stimulated and improved through education.
Sudden mood swings and behavior disorders can occur, especially in adults.
A disease of genetic origin
The causes of this syndrome are genetic in origin. Specifically, the cases detected have been mainly 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 have been detected on chromosome 22.
In most cases, the disease appears sporadically, that is, despite being of genetic origin, it is not generally an inherited disease, but rather the genetic mutation arises during embryonic development. However, hereditary cases have also been detected, in an autosomal dominant manner.
Rubinstein-Taybi syndrome is a genetic disease that has no curative treatment. Treatment focuses on alleviating symptoms, correcting anatomical abnormalities through surgery, and enhancing their capabilities from a multidisciplinary perspective.
At the surgical level, it is possible to correct cardiac, ocular and hand and foot deformities. 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 in the acquisition of basic skills of daily life 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 can be normal as long as the complications derived from their anatomical alterations, especially cardiac ones, are kept under control.
- Ahumada, H .; Ramírez, J .; Santana, B. & Velásquez, S. (2003). A case of Rubinstein-Taybi syndrome. Radiological presentation. Medical Certificate. Grupo Ángeles Health Services.
- Peñalver, A. (2014). Rubinstein-Taybi Syndrome and Family. A case study. School of Medicine. University of Valladolid.
- Rubinstein, JH, 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.