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Doctors for Rubinstein-Taybi Syndrome in Thottakatukara Jn, 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?
Diagnosis of Rubinstein-Taybi Syndrome is based on specific symptoms and laboratory tests. Orthopaedicians examine the patient physically and order for blood tests and X-rays to confirm diagnosis. Genetic testing may be done to check for changes or absence of the genes responsible for the disease.
HOW IS RUBINSTEIN-TAYBI SYNDROME TREATED?
There is no treatment available for Rubinstein-Taybi Syndrome. Such children need maximum supervision to walk and use their motor skills. If the extent of the illness is less, than they can lead close to regular lives. Speech therapists, physiotherapists and counselling helps to.
DID YOU KNOW?
Studies have shown that children with Rubinstein-Taybi Syndrome are at a high risk of being overweight and have short attention span.