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Doctors for Rubinstein-Taybi Syndrome in Ernakulam, Kochi
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Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome,is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, leukemia, and lymphoma. This condition is sometimes inherited as an autosomal dominant pattern and is rare.Typical features of the disorder include
Broad thumbs and broad first toes
Small height, bone growth, small head
Cryptorchidism in males
Unusual facies involving the eyes, nose, and palate
HOW IS RUBINSTEIN-TAYBI SYNDROME DIAGNOSED?
Diagnosis of the Rubinstein-Taybi Syndrome is done on the basis of these physical symptoms seen in a patient. An orthopaedic would also check formation of the legs and hands.
HOW IS RUBINSTEIN-TAYBI SYNDROME TREATED?
There is no treatment for this disorder but treatments that are available can help a patient to cope with symptoms such as patients with skeletal deformities could benefit from physical therapy. In severe cases surgery could be required to align fingers and toes.
DID YOU KNOW?
Abnormal heart beat is a complication of Rubinstein-Taybi Syndrome