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?
In the past the diagnosis was made based on clinical and radiological features. The genetic basis was first identified in 1991 when a new reciprocal translocation with breakpoints in chromosomal region 16p13.3 was discovered in some patients. Subsequently the genes involved in many of the cases have been identified
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?
Studies have shown that children with Rubinstein-Taybi Syndrome are at a high risk of being overweight and have short attention span.