Sunday, May 13, 2012

Rubinstein- Taybi Syndrome

Rubinstein- Taybi syndrome is a rare disease related to a gene defect causing a protein abnormality.  Most cases are sporadic without other known affected family members.  One of the tell-tale signs of Rubinstein- Taybi syndrome is the presence of broad, deviated thumbs (clinodactyly).  Patients are typically short statured and may have slow motor and cognitive development.  There may be heart defects, hirsuitism, seizures, mental retardation, and facial anomalies.  There are reports of difficulties with anesthesia.


Thumb deformity (clinodactyly) in Rubinstein Taybi.


Resources
www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002229/
www.rubinstein-taybi.org/

1 comment:

  1. My daughter has Rubinstein Taybi Syndrome and is 30 years old. She is having frequent back and hip problems. Xrays show normal degeneration and the doctors do not think there is a reason for concern. However knowing more about Rubinstein than they do (Not one of them has ever heard of it) I am concerned. What should I be telling them

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