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Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue (leukemia) also occurs more frequently in people with Rubinstein-Taybi syndrome.
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?
A comprehensive management plan based on the principle of regular multi-system evaluation and intervention has been proposed. This includes regular audiological, ophthalmological and orthopaedic evaluation, as well as echocardiogram and renal ultrasound at the time of diagnosis
DID YOU KNOW?
Rubinstein–Taybi syndrome (RTS)occurs in an estimated 1 in 125,000-300,000 births.