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J Pediatr Genet 2015; 04(03): 177-186
DOI: 10.1055/s-0035-1564571
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Ultra-Rare Syndromes: The Example of Rubinstein–Taybi Syndrome

Silvia Spena
1   Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milano, Italy
,
Cristina Gervasini
1   Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milano, Italy
,
Donatella Milani
2   Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore, Policlinico, Milano, Italy
› Author Affiliations
Further Information

Publication History

24 April 2015

10 May 2015

Publication Date:
28 September 2015 (online)

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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.

Keywords

Rubinstein–Taybi syndrome - clinical and molecular diagnosis - genotype–phenotype correlation - management - therapy
 

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