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?
The management of RSTS is directed toward the specific symptoms of each individual. Orthopedic surgery, physical therapy, and/or other supportive techniques may help treat certain skeletal abnormalities potentially associated with RSTS, such as scoliosis. In some cases, surgery may be performed on the hands and/or feet, particularly when there are extra (supernumerary) fingers and/or toes, or when the fingers are severely misaligned. Affected individuals may require early intervention to prevent and/or monitor respiratory and feeding difficulties. Special education programs, vocational training, speech, and/or behavioral therapy may also be recommended. Families may benefit from contacting parent support groups.
DID YOU KNOW?
Abnormal heart beat is a complication of Rubinstein-Taybi Syndrome