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Doctors for Rubinstein-Taybi Syndrome in Edathala, Kochi
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Rubinstein-Taybi Syndrome is also referred to as broad thumb-hallux syndrome or Rubinstein syndrome. Here the symptoms include intellectual disability along with very distinctive facial features. Such children tend to have broad thumbs and first toes. Alongside, other symptoms here include eye abnormalities that can extend to the heart and kidney defects. It can also caused dental problems.
HOW IS RUBINSTEIN-TAYBI SYNDROME DIAGNOSED?
An orthopaedic would diagnose this syndrome by the signs and symptoms exhibited by patients such as the downward slant of the eyes and broad thumbs and toes. X-rays would help to show deformities and malformations of bones especially of the hands and feet. Genetic testing can be performed to confirm the diagnosis.
HOW IS RUBINSTEIN-TAYBI SYNDROME TREATED?
There is no treatment for the disease. Surgery to repair bones of feet and hands can help improve grip and gait.
DID YOU KNOW?
This problem happens because of genetic mutations and is known to affect 1 out of 100,000 children across the world.