Rubinstein-Taybi syndrome: causes, symptoms and treatment

This disease produces both physical and mental alterations in newborns.

During fetal development, our genes act in a way that orders the growth and formation of the different structures and systems that will shape a new being.

In most cases this development occurs in a normalized manner 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 Rubinstein-Taybi syndromesyndrome, of which we will see its details next.

What is Rubinstein-Taybi syndrome?

Rubinstein-Taybi syndrome is a disease considered rare of genetic origin which occurs in approximately one in 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 us 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 wide-set eyes or hypertelorism, elongated eyelids, ogival palate, hypoplastic maxilla (lack of a maxillary bone).Hypoplastic maxilla (lack of development of the bones of the upper jaw) and other anomalies. In terms of size, as mentioned above, it is very common to find short stature in most cases, as well as a certain level of microcephaly and bone maturational delay. Another easily visible and representative aspect of this syndrome is seen in the hands and feet, with wider than usual thumbs and short phalanges.

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

They have also been found to have dangerous abnormalities have also been found in the respiratory tract, 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 years and may require the use of probes, but as they grow older they tend to suffer from childhood obesity. At the 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 the Rubinstein-Taybi syndrome also affect the nervous system and the also affect the nervous system and the developmental process.. Slowed growth and microcephaly facilitate this.

People with this syndrome usually have moderate intellectual disabilitywith an IQ between 30 and 70. This degree of disability may allow them to acquire the ability to speak and read, but they are generally unable to follow regular education and require special education.

The different developmental milestones are also significantly significant delay, starting to walk late and showing particularities even in the crawling stage. and showing particularities even at the crawling stage. As for speech, some of them do not develop this ability (in which case they should be taught sign language). In those who do, vocabulary is usually limited, but can be stimulated and improved through education.

Sudden mood changes and behavioral disorders may occur, especially in adults.

A disease of genetic origin

The causes of this syndrome are of genetic origin. Specifically, the detected cases have been linked mostly 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, i.e. although it is of genetic origin, it is not generally an inherited disease, but the genetic mutation arises during embryonic development. However, hereditary cases have also been hereditary cases have also been detectedin an autosomal dominant manner have also been detected.

Treatments applied

Rubinstein-Taybi syndrome is a genetic disease with no curative treatment. Treatment focuses on palliation of symptomsThe treatment focuses on palliating the symptoms, correcting anatomical anomalies by surgery and enhancing their capabilities from a multidisciplinary perspective.

At the surgical level, it is possible to correct cardiac, ocular and hand deformities ocular, cardiac, 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 support in the acquisition of basic daily living 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 can be normal as long as they are kept under control. as long as the complications derived from their anatomical alterations, especially cardiac ones, are kept under control.