Rubinstein-Taybi syndrome

Common Name(s)

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome is a genetic disease characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. The condition may be caused by mutations in the CREBBP gene, the EP300 gene, or as the result of a deletion of genetic material from the short (p) arm of chromosome 16. About half of people with Rubinstein-Taybi syndrome do not have an identified mutation or a deletion. The cause of the condition in these cases is unknown. While Rubinstein-Taybi syndrome is considered to have an autosomal dominant pattern of inheritance, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Treatment is symptomatic and supportive.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rubinstein-Taybi syndrome" for support, advocacy or research.

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Rubinstein-Taybi Parent Group USA

The Rubinstein-Taybi Parent Group USA was created to provide contact and information to those families and individuals dealing with RTS, and to provide information to anyone seeking help for an individual with RTS.

Last Updated: 23 Oct 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rubinstein-Taybi syndrome" for support, advocacy or research.

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Rubinstein-Taybi Parent Group USA

The Rubinstein-Taybi Parent Group USA was created to provide contact and information to those families and individuals dealing with RTS, and to provide information to anyone seeking help for an individual with RTS.

http://www.rubinstein-taybi.org/

Last Updated: 23 Oct 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Rubinstein-Taybi syndrome" returned 49 free, full-text research articles on human participants. First 3 results:

Broad thumbs and broad hallux: the hallmarks for the Rubinstein-Taybi syndrome.
 

Author(s): Carolina Candeias da Silva, José Luiz Pedroso, Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Orlando Graziani Povoas Barsottini

Journal: Arq Neuropsiquiatr. 2014 Jan;72(1):81-2.

 

Last Updated: 18 Mar 2014

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Rubinstein-Taybi syndrome: a report of two siblings with unreported cutaneous stigmata.
 

Author(s): Shuchi Bansal, Vineet Relhan, Vijay K Garg

Journal: Indian J Dermatol Venereol Leprol. ;79(5):714-7.

 

Last Updated: 26 Aug 2013

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Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.
 

Author(s): Pierluigi Marzuillo, Anna Grandone, Ruggero Coppola, Domenico Cozzolino, Adalgisa Festa, Federica Messa, Caterina Luongo, Emanuele Miraglia Del Giudice, Laura Perrone

Journal:

 

Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature. The known genetic causes ...

Last Updated: 18 Mar 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Rubinstein-Taybi syndrome" returned 4 free, full-text review articles on human participants. First 3 results:

Rubinstein-Taybi syndrome.
 

Author(s): Raoul C M Hennekam

Journal: Eur. J. Hum. Genet.. 2006 Sep;14(9):981-5.

 

In this review a short overview of pertinent clinical and molecular data of the Rubinstein-Taybi syndrome are provided. A diagnostic decision algorithm, and major issues that should be considered in the management of patients are discussed. Suggestions for further research are given.

Last Updated: 24 Aug 2006

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Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature.
 

Author(s): M M van Genderen, G F Kinds, F C Riemslag, R C Hennekam

Journal: Br J Ophthalmol. 2000 Oct;84(10):1177-84.

 

To delineate the nature and frequency of ocular pathology in Rubinstein-Taybi syndrome (RTs).

Last Updated: 24 Oct 2000

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.