What is this disease?


This July 3 is celebrated the International Day of the Rubinstein-Taybi syndrome (RTS), a rare disease that also needs visibility for people who suffer from it and their families. Let’s see what this condition consists of.

From the Spanish Federation of Rare Diseases explain that this syndrome was discovered in 1963 by pediatrician Jack Rubinstein and radiologist Hooshang Taybi, both North Americans. The date has been chosen to remember that day the death of the professional.

What are the main features of this syndrome?

Feder names that it is characterized by short stature, microcephaly (small head), particular facial features, broad first finger and toe and sometimes angulated and a variable degree of delay in psychomotor development.

In addition, in some cases, gastrointestinal problems (gastroesophageal reflux), heart and kidney abnormalities, and vision problems can be associated, although not all affected people present all of the problems.

Why does it arise?

The Spanish Association of this syndrome clarifies on its website that the known causes of the syndrome are deletions (loss of a DNA fragment) or mutations (changes in genetic information) in a gene.

Thus, genes so far identified as SRT-related genes, are the CBP gene (or CREB-binding protein gene) in 60% of the cases, and the EP300 gene in 3% of the cases. For now, it is unknown if there is another cause of this syndrome.

What is its incidence?

Although the incidence of this syndrome is not well known, since many cases may be unidentified or misdiagnosed, its frequency is estimated at around 1 case per 100,000 or 125,000 births.

The diagnosis

The Spanish Association for Rubinstein-Taybi Syndrome (AESRT) explains what your diagnosis is, because you look at wide / angled thumbs and big toes, generalized delay (growth, mental, etc.), behavioral problems, microcephaly, facial abnormalities (prominent forehead, downward sloping eyelid fissures, broad nasal bridge, convex nasal profile, arched palate, eversioned (outward) lower lip, mild micrognathia (narrow chin), and minor abnormalities in shape, position or rotation of the ears, the unusual grimace or smile, together with the almost complete closing of the eyes when smiling.

The objectives of the International Day of Rubinstein-Taybi Syndrome (SRT) are based on making this disease known to support those who suffer from it. A fact that helps more the work of the associations that ensure it.

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