03° July: Rubinsteins-Taybi syndrome
In 1963, two American doctors, the pediatrician Jack Rubinstein and the radiologist Hooshang Taybi, described several children with the same pattern of physical characteristics and delayed physchomotor development.
Initially this pattern was called “wide thumb syndrome”, but later changed its name to “Rubinstein-Taybi syndrome” (RTS), in recognition of these two doctors. July 3 is the international day of Rubinstein-Taybi syndrome (RTS) around the world. This date was chosen to coincide with the anniversary of the death of Dr. Rubinstein in 2006.
What is the Rubinsteins-Taybi syndrome?
It’s a rare genetic disorder characterized by short stature, wide thumbs and fat fingers, certain features on the fase, as well as learning and development difficulties. Other problems incluide heart and kidney defects, eye and tooth disorders, and obesity. People with Rubinstein-Taybi syndrome are at higher risk for some types of leukemia and brain tumors.
Main symptoms
- Delayed develepment: people with Rubinstein-Taybi syndrome often experience delayed motor development and language.
- Cognitive retardation: intellectual disability is a common feature in this syndrome. The degree of delay can range from mild to moderate.
- Physical abnormalities: people with this syndrome often have distinctive facial features, such as prominent yes, arched eyebrows, wide nose, and large mouth. They may also have a low nasal bridge, thin upper lip, and micrognatia (small jaw).
- Hearing and vison problems: people with Rubinstein-Taybi syndrome may experience hearing problems, such as conductive or sensorineural hearing loss.
- Heart problems: some people with this syndrome may have cognetial heart abnormalities, such as ventricular septal defect or pulmonar stenosis.
- Feeding difficulties: infants and young children with this syndrome may have difficulty feeding due to sucking and swallowing problems.
- Behavior problems: some people with Rubinstein-Taybi syndrome may have hyperactive behaviors, attention difficulties, autism spectrum disordes, or behavior problems.
Knowing about Rubinstein-Taybi syndrome is important to understand, support quality of life of people affected by this condition, as well as to boost research and development of treatments. Information and knowledge are fundamental to creating an inclusive society and providing adequate care to those in need.