Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome.
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.
Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milano, Italy.
Silvia
S
Spena
Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milano, Italy.
Cristina
C
Gervasini
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore, Policlinico, Milano, Italy.
Donatella
D
Milani
Rubinstein–Taybi syndrome; clinical and molecular diagnosis; genotype–phenotype correlation; management; therapy