|Thumb deformity (clinodactyly) in Rubinstein Taybi.|
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.