Rubinstein-Taybi syndrome: causes, symptoms and treatment

During fetal development, our genes act in order to 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 the genes that cause alterations in the development. This gives rise to different syndromes, such as Rubinstein-Taybi syndrome, of which we will see its details below.

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What is Rubinstein-Taybi syndrome?

Rubinstein-Taybi syndrome is a disease considered rare of genetic origin It occurs approximately in one in every hundred thousand births. It is characterized by the presence of intellectual disability, the thickening of the thumbs of the hands and feet, a development slowness, short stature, microcephaly and diverse facial and anatomical alterations, characteristics that are explored through continuation.

Thus, this disease presents both anatomical (malformations) and mental symptoms. Let's see what they consist of and how serious they are.

Symptoms linked to anatomical alterations

At the level of facial morphology it is not uncommon to find eyes wide apart or hypertelorism, elongated eyelids, high-arched palate, hypoplastic maxilla (lack of development of the bones of the upper jaw) and other abnormalities. Regarding size, as we have said before, it is very common for them to be mostly short, as well as to have a certain level of microcephaly and delayed bone maturation. Another of the easily visible and representative aspects of this syndrome is seen in the hands and feet, with thumbs that are wider than usual and with short phalanges.

About a quarter of people with this syndrome tend to have congenital heart defects, which must be monitored with special caution as they can lead to the death of the minor. Around half of those affected have kidney problems, and it is also common for them to have other problems in the genitourinary system (such as a bifid uterus in girls or the failure of one or both testicles to descend in children).

have also been found dangerous abnormalities in the respiratory tract, in the gastrointestinal system and in organs linked to nutrition that lead to eating 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 older they tend to suffer from childhood obesity. At the neurological level, it can sometimes be observed seizures, and have a higher risk of different cancers.

Intellectual disability and developmental problems

The alterations produced by the Rubinstein-Taybi syndrome they also affect the nervous system and the developmental process. Slow growth and microcephaly facilitate this fact.

People with this syndrome usually have moderate intellectual disability, with a I.Q between 30 and 70. This degree of disability may allow them to acquire the ability to speak and read, but generally they cannot follow ordinary 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 sign language should be taught). In those who do, the vocabulary is often limited, but it can be stimulated and improved through education.

Sudden mood swings and behavioral disorders can occur, especially in adults.

• Related article: "Types of intellectual disability (and characteristics)"

A disease of genetic origin

The causes of this syndrome are of genetic origin. Specifically, the cases detected have been linked mainly 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, as a general rule, an inherited disease, but rather a genetic mutation that arises during development embryonic. However hereditary cases have also been detected, in an autosomal dominant manner.

applied treatments

Rubinstein-Taybi syndrome is a genetic disease that has no curative treatment. Treatment focuses on alleviating symptoms, correct anatomical anomalies through surgery and enhance their capabilities from a multidisciplinary perspective.

At the surgical level it is possible to correct deformities cardiac, ocular and 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 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 its anatomical alterations, especially cardiac ones, are kept under control.