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 59 free, full-text research articles on human participants. First 3 results:

Coexistence of keloids and pilomatricoma in a patient with Rubinstein-Taybi syndrome.
 

Author(s): Yosuke Yagi, Yutaka Kuwatsuka, Misachi Asai, Mai Honda, Atsushi Utani

Journal:

 

Rubinstein-Taybi syndrome (RTS) is an autosomaldominant hereditary disease, which contains many skeletal and organ anomalies as well as mental retardation. Although high incidence of keloids in RTS is known, it is difficult to find a detailed report on the clinical features of keloids. ...

Last Updated: 31 Dec 1969

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[Clinical features of Rubinstein-Taybi syndrome and novel mutation in the CREBBP gene: an analysis of one case].
 

Author(s): Yuan Li, Shan He, Hong-Ling Zhu

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2017 Nov;19(11):1155-1158.

 

The patient was a girl aged 3 years and 8 months with normal body length and body weight at birth. The girl had feeding difficulty after birth. Her height, body weight, and head circumference were below the 3rd percentile. She had intellectual disability and an unusual facies manifesting ...

Last Updated: 31 Dec 1969

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First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.
 

Author(s): María López, Verónica Seidel, Paula Santibáñez, Cristina Cervera-Acedo, Pedro Castro-de Castro, Elena Domínguez-Garrido

Journal:

 

Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 ...

Last Updated: 31 Dec 1969

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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 6 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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.