International Rubinstein-Taybi Syndrome Day

Rubinstein-Taybi syndrome is a rare disease, and its international day aims to raise visibility and awareness. Find out about its causes, symptoms and possible treatments.
International Rubinstein-Taybi Syndrome Day

Last update: 18 September, 2021

Every July 3 is International Rubinstein-Taybi Syndrome Day. This is a rare genetic condition that involves multiple symptoms, mostly known for sufferers’ wide thumbs.

It’s difficult to know exactly how common Rubinstein-Taybi syndrome is. However, scientists estimate that 1 in 125,000 people have this condition.

The international day is a tool to activate health systems around the world, spread reliable information, increase support networks and improve available treatments. Read on to find out much more!

What is Rubinstein-Taybi syndrome?

Rubinstein-Taybi syndrome is a disease associated with physical and intellectual problems, which involves an increased likelihood of non-cancerous brain tumors. Another name for it is broad thumb-hallux syndrome.

Its causes are genetic. To begin with, about 50% of cases result from a mutation of the CREBBP gene. This gene’s function is to instruct the body to generate a protein which has a direct influence on the activity of other genes. In addition, a number of other cases are caused by mutations of the EP300 gene or loss of genetic material on chromosome 16.

However, Rubinstein-Taybi Syndrome is sometimes not a result of any of these genetic factors, and in these cases, scientists are unsure what causes it. Approximately 40% of those affected belong to this group. Because of this, its international day is an important way to encourage further research.

Among the changes it causes, which vary greatly from one patient to another, are the following:

  • Learning difficulties
  • Short stature
  • Wide thumbs and big toes
  • A pointed nose
  • Arched eyes
  • Eye and vision problems
  • Microcephaly
Rubinstein-Taybi Syndrome: a DNA strand.
Genetic causes are responsible for some cases of this condition, but not all.

Diagnosis and treatments

Because it involves so many different symptoms, diagnosis involves many disciplines. That is, specialists from genetics, gastroenterology, ophthalmology, urology and pediatrics will all be useful for detecting patterns.

Initially, doctors use physical tests, patient history, and molecular cytogenetic studies using fluorescence in situ hybridization (FISH) as diagnostic tools. Teamwork is important in all cases.

As regards treatment, there’s no one approach that’s recommended for the disease. In fact, treatment can involve a number of diverse techniques:

  • Speech therapy
  • Cognitive-behavioral work
  • Surgery for physical anomalies

Why do we have an International RTS Day?

International Rubinstein-Taybi Syndrome Day is July 3, the anniversary of the death of pediatrician Jack Rubinstein in 2006. Together with radiologist Hooshan Taybi, Dr. Rubinstein took it upon himself to describe the patterns of the anomaly. As a result, the first name given to the anomaly was the broad-thumb syndrome.

Basically, the International Day is a response to the little recognition the condition has had over the years, which has meant little progress in identifying the causes and finding better treatments.

Goals and activities

The goals have remained constant since the first year: to expand support worldwide for those affected, and thus encourage more activity on the part of health systems. Understanding this, the main goals are the following:

  • Firstly, to make official information about Rubinstein-Taybi syndrome available to everyone
  • To increase the involvement of governments in the advancement of treatments
  • To unite the families of those affected to improve treatment strategies
  • And finally, to promote the identification of the unknown causes

In keeping with this, among the activities are conferences to orient medical personnel on the disease, information days, and free consultations with specialists.

A man speaks at a conference.
As part of the day, experts organize talks and conferences to raise awareness of the condition and to increase global knowledge about the disorder.

How can I participate in International Rubinstein-Taybi Syndrome Day?

There are many options for taking part in this day that don’t require your physical presence. Donating money, for example, spreading the word on social media, volunteering. Any support is welcome.

In addition, here are some more ideas for helping out on the day:

  • Organize a charity event to raise money for research and necessary treatments
  • Share publications with reliable information on social media
  • Share the story of anyone you know with the disease.
  • Act as a volunteer to deliver basic information to people of all ages
  • And, finally, petition the World Health Organization to give greater recognition to the condition

Rubinstein-Taybi syndrome and genetic counseling

Finally, it’s important to mention that Rubinstein-Taybi syndrome is considered to be an autosomal dominantly inherited condition. As a result, this means that genetic testing is a good idea for couples who have a sufferer in their families. Despite this, most patients with the condition have no genetic predisposition.

At the same time, early detection is one of the best ways to confront this before complications worsen the quality of life too much. To achieve this, it’s a good idea to talk with a team of experienced specialists.

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