He Rubinstein Tayib syndrome (SRT) that this July has celebrated its world day, is a disease considered rare due to the number of people it affects.
Specifically, Rubinstein Tayib Syndrome was diagnosed to one in every one hundred twenty-five thousand births.
It is a disease that involves several congenital anomaliesamong which the especially broad thumbs and first toes, a small head size and easily recognizable facial features stand out.
The day of July 3 was chosen and is commemorated because it coincides with the date of the death of jack rubinsteinpediatrician and discoverer, in 1963 together with the radiologist Hoshan Taibiof the then called broad thumbs syndrome.
What are the causes for which a child suffers from Rubinstein Tayib Syndrome
This syndrome, considered a rare disease due to its low population incidence (one in every 125,000 births), is caused by losses or mutations in some fragment of a gene of the child.
There are several genes that have been identified as related to causing STR (Rubinstein Taybi Syndrome)
Its about CBP gene or CREB-binding protein gene and the EP300 gene. The first is to blame for 60% of the cases and the second for 3%.
There is, although it is assumed that it is, ignorance about whether there are more genetic causes that can cause Rubinstein Tayib Syndrome.
The mutations or alterations of these genes occur spontaneously and there are no indications of a direct relationship between the SRT and possible problems in pregnancy.
It affects boys and girls equally.
What symptoms does a child have with Rubinstein Tayib Syndrome?
This syndrome, which is detected from the birth of the little ones, entails several congenital anomalies that may not completely affect each case, but rather vary depending on the child.
In general terms, we can describe as symptoms of Rubinstein Tayib Syndrome the following:
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A small head size.
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Thumbs and first big toes especially wide.
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Typical facial features: prominent forehead, cleft eyelids, broad nasal bridge, convex nasal profile, everted lower lip, micrognathia, or narrow chin.
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arched palate
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Varying degrees of generalized delay.
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Behavior problems.
It is these symptoms that help diagnose the SRT in babies after birth.
In addition, genetic tests performed on parents can confirm the diagnosis in only approximately 65% of patients.
Regarding the possibility that, in a second, after giving birth to a child with Rubinstein Tayib Syndrome, the child that is born also suffers from it, the chances are reduced to 0.1%.
In case of pregnancy of those people who suffer from TRS, it is estimated that the chances of the newborn also suffering from it rise to 50%.
What treatment is there for Rubinstein Tayib Syndrome
Currently, there is no specific treatment for Rubinstein Tayib Syndrome.
Symptoms that imply delays in the cognitive development of children are treated on a case-by-case basis with language therapies and cognitive therapies.
Improvements can be made through surgery on the thumbs of the hands and feet of the little onesfacilitating the grip and relieving the discomfort they suffer.
The latter may not be necessary to do according to the degree of condition of each child.
All the specialists insist on the importance of addressing existing problems regarding the normal development of children as soon as possible.
It is also important submitting children to hearing and cardiac examinations in order to confirm a correct state, since there have been cases with abnormal heart structures and heart rhythm at birth, in addition to repetitive infections in the ear canals.