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Rubinstein-Taybi Syndrome

What is Rubinstein-Taybi Syndrome?

Rubinstein-Taybi Syndrome is a rare disorder characterized by short stature, learning difficulties distinctive facial features, and broad thumbs and first toes.

 

Rubinstein-Taybi Syndrome is a rare disorder characterized by short stature, learning difficulties distinctive facial features, and broad thumbs and first toes.
Acknowledgement of Rubinstein-Taybi Syndrome has not been added yet.
1.0http://www.orpha.net
Synonyms for Rubinstein-Taybi Syndrome has not been added yet.
Rubinstein-Taybi Syndrome is caused by mutations in the CREBBP gene.
Short stature, beaked nose, slightly malformed ears, a highly arched palate, antimongoloid slant of eyes, heavy or highly arched eyebrows, small head, broad thumbs and/or great toes.
Diagnosis is by identification of the disorder symptoms listed above. The facial characteristics become more pronounced as a child gets older, and therefore occasionally diagnosis can only be confirmed by waiting until this occurs.
Diagnostic tests of Rubinstein-Taybi Syndrome has not been added yet
Treatments of Rubinstein-Taybi Syndrome has not been added yet.
Prognosis of Rubinstein-Taybi Syndrome has not been added yet.
Tips or Suggestions of Rubinstein-Taybi Syndrome has not been added yet.
References of Rubinstein-Taybi Syndrome has not been added yet.
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Community Resources
Title Description Date Link
RTS Support Group (UK)

Website of UK charity aiming to provide help and support to those whose lives are affected by Rubinstein-Taybi Syndrome.

03/20/2017

Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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Community User List

I have 5 children and i run a pub, two of my children are diabeled, one has bi-polar disorder (we think) and the other has an undiagnosed genetic disorder. We think it may be Rubinstien Taybi...
I have a niece with RTS and I became involved with the RTS Support Group to help.

 

 

I am the newsletter editor and help in as many ways as I can.
Vice-chair of RTS Support Group (UK)
I am 9 years old & have RTS.
Mom to Kevin, 30 yrs. old, RTS.
im a 25 old girl, and ive a brother which have RTS. were from Mexico so we dont have enoght information abour this syndrome, so i love when i have the opportunity to know people who have family or...

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