Ultra-Rare Syndromes: The Example of Rubinstein–Taybi Syndrome
Abstract Rubinstein–Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Clinical diagnosis can be complicated by the heterogeneous clinical presentation and the lack of a consensus list of diagnostic criteria, and it is confirmed by molecular tests in app...
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| Published in | Journal of pediatric genetics (Birmingham, Ala.) Vol. 4; no. 3; pp. 177 - 186 |
|---|---|
| Main Authors | , , |
| Format | Journal Article |
| Language | English |
| Published |
Stuttgart · New York
Georg Thieme Verlag KG
01.09.2015
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| Series | Genetic Advances in Intellectual Disability |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Abstract
Rubinstein–Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Clinical diagnosis can be complicated by the heterogeneous clinical presentation and the lack of a consensus list of diagnostic criteria, and it is confirmed by molecular tests in approximately 55 to 78% of cases. The etiology is partially known with mutations in two functionally related genes:
CREBBP
and
EP300
. Notwithstanding the knowledge on clinical, genetic, and allelic heterogeneity, no clear genotype–phenotype correlation has yet been established. Standardized guidelines for the management of pediatric patients are available and therapy for RSTS patients is currently only symptomatic. In this article, several clinic and genetic aspects of RSTS are critically reviewed. |
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| AbstractList | Rubinstein-Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Clinical diagnosis can be complicated by the heterogeneous clinical presentation and the lack of a consensus list of diagnostic criteria, and it is confirmed by molecular tests in approximately 55 to 78% of cases. The etiology is partially known with mutations in two functionally related genes: CREBBP and EP300. Notwithstanding the knowledge on clinical, genetic, and allelic heterogeneity, no clear genotype-phenotype correlation has yet been established. Standardized guidelines for the management of pediatric patients are available and therapy for RSTS patients is currently only symptomatic. In this article, several clinic and genetic aspects of RSTS are critically reviewed. Abstract Rubinstein–Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Clinical diagnosis can be complicated by the heterogeneous clinical presentation and the lack of a consensus list of diagnostic criteria, and it is confirmed by molecular tests in approximately 55 to 78% of cases. The etiology is partially known with mutations in two functionally related genes: CREBBP and EP300 . Notwithstanding the knowledge on clinical, genetic, and allelic heterogeneity, no clear genotype–phenotype correlation has yet been established. Standardized guidelines for the management of pediatric patients are available and therapy for RSTS patients is currently only symptomatic. In this article, several clinic and genetic aspects of RSTS are critically reviewed. Rubinstein–Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Clinical diagnosis can be complicated by the heterogeneous clinical presentation and the lack of a consensus list of diagnostic criteria, and it is confirmed by molecular tests in approximately 55 to 78% of cases. The etiology is partially known with mutations in two functionally related genes: CREBBP and EP300 . Notwithstanding the knowledge on clinical, genetic, and allelic heterogeneity, no clear genotype–phenotype correlation has yet been established. Standardized guidelines for the management of pediatric patients are available and therapy for RSTS patients is currently only symptomatic. In this article, several clinic and genetic aspects of RSTS are critically reviewed. |
| Author | Milani, Donatella Spena, Silvia Gervasini, Cristina |
| AuthorAffiliation | 1 Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milano, Italy 2 Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore, Policlinico, Milano, Italy |
| AuthorAffiliation_xml | – name: 1 Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milano, Italy – name: 2 Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore, Policlinico, Milano, Italy |
| Author_xml | – sequence: 1 givenname: Silvia surname: Spena fullname: Spena, Silvia organization: Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milano, Italy – sequence: 2 givenname: Cristina surname: Gervasini fullname: Gervasini, Cristina email: cristina.gervasini@unimi.it organization: Medical Genetics, Department of Health Sciences, Università degli Studi di Milano – sequence: 3 givenname: Donatella surname: Milani fullname: Milani, Donatella organization: Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore, Policlinico, Milano, Italy |
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Rubinstein–Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Clinical diagnosis can be complicated by... Rubinstein-Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Clinical diagnosis can be complicated by the... Rubinstein–Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Clinical diagnosis can be complicated by the... |
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| Title | Ultra-Rare Syndromes: The Example of Rubinstein–Taybi Syndrome |
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