Rubinstein-Taybi Syndrome World Awareness Day
July 3 marks the World Awareness Day for Rubinstein-Taybi syndrome, also known as Broad Thumb-Hallux Syndrome, a genetic disease unknown to most of the population. For this reason, and to give visibility to people who have this syndrome, we’ve decided to write this article.
This rare disease was first discovered in 1963 by pediatrician Jack Herbert Rubinstein and radiologist Hoosgan Taybi, who gave the syndrome its name. Do you want to know why it occurs, what its characteristics are, and what possible treatment involves? Pay attention to what we’ll explain below.
Rubinstein-Taybi Syndrome (RTS) affects only one in 125,000 births. It’s a rare genetic disorder whose main characteristic is the presence of abnormally broad thumbs and toes, as well as short stature, peculiar facial features, and intellectual disability.
The causes that explain the appearance of STR are deletions, loss of a DNA fragment, or mutations or changes in the genetic information, in one of the following genes:
- CBP (located on chromosome 16): occurs in 50 percent of cases.
- EP300 (located on chromosome 22): occurs in three percent of cases.
These causes account for only 53 percent of people with STR. In other words, experts have yet to identify the causative rationale in 47% percent of cases. Therefore, further research is necessary in order to find other genes involved.
The most common symptoms
Rubinstein-Taybi syndrome is characterized by the presence of facial, musculoskeletal, ophthalmological, and skin problems or anomalies. Specifically, the symptoms that these people usually present are as follows:
- Microcephaly (small head)
- Wide nasal bridge
- Downward palpebral fissures (antimongoloid)
- Prominent nose in the shape of a parrot’s beak
- Long eyelashes
- Hypertelorism (excessively separated eyes)
- Ogival palate
- Thin upper lip
- Thumbs with wide terminal phalanges in hands and feet
- Short stature
- Stiff gait
- Hirsutism (excess of hair)
- Flat capillary hemangioma
- Incomplete testicles or other testicular problems
It’s important to note that a person with a diagnosis of Rubinstein-Taybi Syndrome won’t always have all of these symptoms. Furthermore, the impact of Rubinstein-Taybi Syndrome isn’t limited to this set of physical and facial features. It can also manifest itself through malformations in different organs, meaning that it can also affect the heart, kidneys, or genitourinary system.
“My fight started the moment someone looked at my son as a rare disease… I’ll win this battle when they look at him for what he is.”
-Testimonial from a mother-
Treatment of the disease
The most effective treatments in improving the quality of life of these children are the following:
- Surgery of the thumbs on the hands and feet
- Multisensory stimulation
- Psychopedagogical re-education
- Speech therapy
- Augmentative communication strategies
- Occupational physical therapy
About World Awareness Day for Rubinstein-Taybi Syndrome
The fact that there’s a World Awareness Day for Rubinstein-Taybi Syndrome Day, celebrated on July 3, is beneficial for the inclusion of these people in society.
The aim of this day is to raise awareness and sensitize the population about the characteristics of this rare genetic disease. At the same time, awareness helps to make the existence of this syndrome visible to others. This is essential for its early detection in childhood and for providing families and the people with RTS with resources and support.
In addition, throughout the year, there are many non-profit organizations dedicated to raising awareness and providing information and care for this group and their environment.
In conclusion, it’s important that, together, we can ensure that people with RTS don’t feel like strangers who don’t fit into society. Rather, we must fight for a society where they can be citizens with the same rights and privileges as everyone else.It might interest you...