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. The disorder’s cause is genetic.
Is Rubinstein-Taybi syndrome fatal?
Life expectancy generally does not seem to be affected, except in children with complex cardiac (heart) defects. Cancers and respiratory infections are the most common causes of death. Survival rates in general are good and there are many reports of adults with RTS.
What causes Rubinstein-Taybi?
This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
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 do you test for Rubinstein-Taybi syndrome?
The diagnosis of RSTS is primarily based on physical (clinical) features, including a downward to the eyes (downslanted palpebral fissures), a low-hanging nasal septum (columella), a high palate, cusp-like structures (talon cusps) on the front teeth, and/or broad and angulated thumbs and great toes.
Is Rubinstein-Taybi syndrome preventable?
Despite the genetic involvement which plays a role in the development of Rubinstein-Taybi syndrome, this condition is usually not passed down from parent to child. Rather, these genetic mutations are spontaneous in the genetic makeup of the child.
What is Rubinstein-Taybi syndrome Type 2?
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.
Who discovered Rubinstein-Taybi syndrome?
Rubinstein-Taybi Syndrome (RTS) is a genetic multi-system disorder characterized by facial abnormalities, broad thumbs and great toes, and developmental disability. It was first described in 1957 and was identified as a recognizable syndrome in 1963 by Dr. Jack Rubinstein and Dr. Hooshang Taybi.
Is Coffin Siris syndrome hereditary?
Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new mutation. Occupational, physical, and/or speech therapy can help affected individuals reach their full potential.