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Rubinstein Taybi Syndrome

Guest Author - Jeanetta Polenske

Rubinstein-Taybi Syndrome (RTS) is a rare disease that occurs in approximately 1 out of every 100,000 children born. It is estimated that only 1,000 cases have been diagnosed in the world. Damaged or missing genes on chromosomes 16 or 22 have been found in about half of all diagnosed cases, but there is no known cause for the genetic defect.

It is usually diagnosed in babies or toddlers who show certain similar physical features and can be confirmed with DNA testing. Those with RTS have a very large or very small head, low set ears, drooping eyes and a beak-like nose. More obvious are the thumbs and big toes, which are very broad and set wide apart from the other digits.

RTS babies are born with normal birth weight and height. Later, they display delayed growth and, as adults, are normally of short stature. An abnormally shaped spinal column and excess hair growth (also known as hirsutism) are not uncommon.

Diligent eye, ear and dental care are necessities, as individuals with RTS tend to have more incidents of colds and ear infections, vision and hearing issues, and problems with crowded teeth. Most experience some level of constipation and some have a missing kidney. Eating or weight problems may require dietary management. They tend to have a very high pain tolerance, so it is necessary to look for signs that indicate that medical follow-up is needed.

A heart defect is found in some and may lower life expectancy, but overall it can be expected that someone with RTS will live a normal life span. There is no cure for the syndrome. Medications are given to treat any mental health issues, bowel difficulties, GERD, epilepsy or other medical conditions.

Most are capable of learning activities of daily living and can dress, groom and feed themselves with some assistance. Poor muscle tone results in motor clumsiness, but RTS children learn to walk, and can perform many higher functioning skills. Intellectual disabilities are present along with a short attention span. However, they are capable of learning to speak a few words and can be taught sign language.

Those with RTS are loving, happy children and adults and are joyful to meet and interact with. They are so friendly that they sometimes have to be taught to greet others in ways other than with big hugs because they know no strangers. Like any other people, most enjoy social activities including sports, dancing, theater and eating out.

Since TBS is so rare, it is very difficult to find information on the syndrome. There are some excellent support organizations in the United States, UK, Australia and the Netherlands, accessible online, that help bring families together to share their experiences. Current research is primarily focused on identifying pre-natal indicators, early diagnosis and causes for the disease.
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Content copyright © 2014 by Jeanetta Polenske. All rights reserved.
This content was written by Jeanetta Polenske. If you wish to use this content in any manner, you need written permission. Contact BellaOnline Administration for details.

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