What are the symptoms of Rubinstein-Taybi syndrome?
What are the symptoms of Rubinstein-Taybi syndrome?
Symptoms
- 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.
What is Rubinstein-Taybi syndrome?
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 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. In some people with RTS, the cause is unknown.
What is a Rubinstein-Taybi test?
Test description The Invitae Rubinstein-Taybi syndrome test analyzes two genes associated with Rubinstein-Taybi syndrome (RSTS), a multisystem disorder characterized by short stature, recognizable facial features, broad thumbs and great toes, and moderate to severe intellectual disability.
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.
Is Rubinstein Taybi Syndrome fatal?
What is the life expectancy of someone with Rubinstein Taybi syndrome?
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.
Is Rubinstein Taybi syndrome fatal?
What are the features of Rubinstein Taybi syndrome?
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 kind of facial features does RSTS cause?
Infants with RSTS have several distinctive head and facial (craniofacial) features. Most affected infants have a large, “beak-shaped” or straight nose with a broad nasal bridge.
What are the characteristics of an infant with RSTS?
In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation), and seizures. Infants with RSTS have several distinctive head and facial (craniofacial) features.
What kind of toes do children with RSTs have?
In addition to abnormally broad thumbs and toes, some children with RSTS may have toes that overlap, unusually shaped bones of the feet (metatarsals), and/or abnormally duplicated bones (proximal or distal phalanges) of the great toes (halluces).