Rubinstein-Taybi syndrome

Common Name(s)

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome is a condition characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. The condition may be caused by a mutation in the CREBBP or EP300 gene, or as the result of a deletion of genetic material from the short (p) arm of chromosome 16. In some affected people, the cause is unknown. While Rubinstein-Taybi syndrome is inherited in an autosomal dominant manner, most cases result from a new mutation in the responsible gene and are not inherited from a parent. 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 58 free, full-text research articles on human participants. First 3 results:

Rubinstein-Taybi syndrome associated with humoral immunodeficiency.
 

Author(s): S Pasic

Journal: J Investig Allergol Clin Immunol. 2015 ;25(2):137-8.

 

Last Updated: 22 May 2015

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Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.
 

Author(s): Hee Jeong Yoo, Kyung Kim, In Hyang Kim, Seong-Hwan Rho, Jong-Eun Park, Ki Young Lee, Soon Ae Kim, Byung Yoon Choi, Namshin Kim

Journal:

 

Rubinstein-Taybi syndrome (RSTS) is a rare condition with a prevalence of 1 in 125,000-720,000 births and characterized by clinical features that include facial, dental, and limb dysmorphology and growth retardation. Most cases of RSTS occur sporadically and are caused by de novo ...

Last Updated: 15 Mar 2015

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Patellofemoral ligament reconstruction in a patient with Rubinstein-Taybi syndrome.
 

Author(s): Fardin Mirzatolooei

Journal: Acta Med Iran. 2014 ;52(3):228-30.

 

Recurrent dislocation of patella may occur in patients with ligament laxity. Method of treatment in this condition is controversial but patellofemoral ligament reconstruction is the most accepted method. We present a patient with Rubinstein-Taybi syndrome and recurrent patellar dislocation ...

Last Updated: 6 Jun 2014

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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 7 free, full-text review articles on human participants. First 3 results:

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
 

Author(s): Donatella Milani, Francesca Maria Paola Manzoni, Lidia Pezzani, Paola Ajmone, Cristina Gervasini, Francesca Menni, Susanna Esposito

Journal:

 

Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal ...

Last Updated: 22 Apr 2015

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Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report.
 

Author(s): Nikolaos Bounakis, Christos Karampalis, Hilary Sharp, Athanasios I Tsirikos

Journal:

 

Rubinstein-Taybi syndrome is an autosomal dominant disorder resulting in congenital craniofacial deformities, and divided into types 1 and 2. Scoliosis has not been reported as one of the extra-cranial manifestations of Rubinstein-Taybi syndrome type 2.

Last Updated: 5 Feb 2015

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The Rubinstein-Taybi syndrome: modeling mental impairment in the mouse.
 

Author(s): A Barco

Journal: Genes Brain Behav.. 2007 Jun;6 Suppl 1():32-9.

 

Mental impairment syndromes are diagnosed based on below-average general intellectual function originated during developmental periods. Intellectual abilities rely on the capability of our brain to obtain, process, store and retrieve information. Advances in the past decade on the ...

Last Updated: 4 Jun 2007

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.