What is the cause of Rubinstein-Taybi syndrome?

The syndrome may be caused by a mutation in the CREBBP or EP300 gene , or as the result of a very small loss (microdeletion) of genetic material from the short (p) arm of chromosome 16.

Can Rubinstein-Taybi syndrome be cured?

t reverses or cures RTS. There are, however, ways to including kidney problems, and dental and speech problems.

What is the life expectancy of someone with Rubinstein-Taybi syndrome?

The disorder is fatal in children. Life expectancy does not surpass five years of age.

What is Rubinstein-Taybi syndrome Type 2?

Rubinstein-Taybi syndrome (RTS) is an autosomal dominant neurodevelopmental disorder characterized by growth deficiency, broad thumbs and great toes, intellectual disability and characteristic craniofacial appearance.

Is Rubinstein-Taybi syndrome a rare disease?

RSTS is a rare disorder that affects males and females in equal numbers. The exact incidence of RSTS is unknown, although a study in the Netherlands estimates the incidence to be between one in 100,000 to one in 125,000 individuals.

Is Rubinstein-Taybi syndrome preventable?

Rubinstein-Taybi syndrome is treated by addressing the medical issues caused by the condition to ensure they do not evolve into life-threatening complications. This being said, there is no specific treatment for Rubinstein-Taybi syndrome.

What are the symptoms of Rubinstein-Taybi syndrome?

Symptoms include:

• Broadening of the thumbs and big toes.
• Constipation.
• Excess hair on body (hirsutism)
• Heart defects, possibly requiring surgery.
• Intellectual disability.
• Seizures.
• Short stature that is noticeable after birth.
• Slow development of cognitive skills.

How common is Rubinstein-Taybi syndrome?

Is Rubinstein Taybi syndrome a rare disease?

What are the symptoms of Rubinstein Taybi syndrome?

Is Rubinstein-Taybi Syndrome a disability?

Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes . Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity.

What is RTS condition?

Rubinstein-Taybi syndrome (RTS) is a genetic disease. It involves broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability.