What is Rubinstein-Taybi Syndrome?
Rubinstein-Taybi Syndrome is a rare genetic condition that can affect many organ systems of the body. It affects about 1 in 125,000 people. In most cases, Rubinstein-Taybi Syndrome occurs randomly, with no apparent cause.
Some common symptoms of Rubinstein Taybi Syndrome include:
* abnormally broad toes and thumbs (possibly angulated)
* growth deficiency
* varying degrees of intellectual disability
* delay in developing expressive speech
* low-set and/or malformed ears
* strabismus, cataracts, tear duct obstruction
* abnormally large or 'beak shaped' nose
* low muscle tone
* undescended testicles in males
* excess hair growth (hirsutism)
* skeletal abnormalities
* congenital heart defects
For more detailed information about Rubinstein-Taybi Syndrome please download the Information Sheet here.
We are very grateful to the Centre for Genetics Education for making this available to us. www.genetics.edu.au