Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome is a genetic disease of what are considered rare diseases, those that affect less than 5 people per 10,000 inhabitants. This syndrome was first described in 1963 by American doctors Jack Herbert Rubinstein and Hooshang Taybi. A world day is dedicated to him, celebrated on July 3.

• It is a genetic disease, within the group of rare diseases.
• Much wider thumbs and big toes, mental retardation, a particular face and malformations of different organs are characteristic features of the disease.
• When suspecting this syndrome, it is essential to seek help from a team of experts that includes pediatricians, psychologists, speech therapists.

Who and how does it affect

Rubinstein-Taybi syndrome affects one in 250,000 people, without differentiating between men and women or between races. This has been related to mutations at the level of the CRB gene, the gene that encodes the CREB-binding protein and is located on the short arm of chromosome 16 in 60% of cases. In other cases, the EP300 gene has been shown to be involved.

They are usually point mutations, without following a hereditary pattern. The probability that a couple with a child affected by Rubinstein-Taybi syndrome will have a second child with the same syndrome is less than 0.1%. However, it must be said that if a person with Rubinstein-Taybi syndrome has offspring, the probability of transmitting the disease is 50%. Prenatal diagnosis is not carried out, although genetic tests can be performed to detect alterations in chromosome 16, especially if there is a family history of the syndrome. Usually the diagnosis is made around 15 months of age, although sometimes, if the characteristics of the syndrome are not very marked, it can go unnoticed until adolescence.

Features of the disease

The main features of the disease are the presence of thumbs and big toes much wider than usual, together with growth retardation (which is not observed at birth), different degrees of mental retardation, a particular face, various malformations of different organs and a tendency to the appearance of tumors. Children with Rubinstein-Taybi syndrome usually have:

• Small head (microcephaly)
• Pronounced forehead
• Droopy eyelid fissures (eyelid ptosis)
• Eyes wide apart (hypertelorism) and with
• Wide nasal bridge
• Very convex nose
• Lower lip belfo (drooping out)
• Arched palate
• Small chin (micrognathia)
• Protruding or very low set ears
• Beatific smile

It is common for these children to present joint, vertebral, cardiac or genitourinary malformations, being very common in boys the absence of a testicle or both in the scrotal bag. Often these malformations may require surgical treatment, as well as alterations of the first fingers and toes. How to act When suspecting a child with Rubinstein-Taybi syndrome, it is essential to seek the help of a team of experts - pediatricians, psychologists, speech therapists - in order to cope with the situation for the good of both you and your immediate environment.