title: Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
abstract: BACKGROUND
  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 growth retardation. However, no standard diagnostic criteria are available for RSTS. In this review, we summarized the clinical features and genetic basis of RSTS and highlighted areas for future studies on an appropriate diagnostic protocol and follow-up care for RSTS.
  
  
  CONCLUSIONS
  RSTS is primarily characterized by delayed growth in height and weight, microcephaly, dysmorphic facial features, and broad thumbs and big toe. Over 90% RSTS individuals with disabilities survive to adulthood, but healthcare for these patients is particularly complex, time-consuming, and costly. In addition, no standard diagnostic criteria and follow-up care guidelines are available for RSTS. It has been shown that mutations in the genes encoding the cyclic-AMP-regulated enhancer binding protein (CREBBP) and the E1A-binding protein p300 (EP300) contributed to the development of RSTS. Therefore, genetic tests are useful for the diagnosis of RSTS, although most RSTS cases are currently diagnosed based on clinical features. The clinical features of RSTS have been extensively studied, which significantly contributes to the diagnosis of this extremely rare syndrome. However, the pathogenesis and genotype-phenotype associations of RSTS are largely unknown. Therefore, multicenter studies and international cooperation are highlighted for better understanding of this disease, establishing standard diagnostic criteria, and providing professional management and follow-up care of RSTS.
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milano, Italy. donatella.milani@policlinico.mi.it.
authors.forename: Donatella
authors.initials: D
authors.lastname: Milani
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milano, Italy. fmp.manzoni@gmail.com.
authors.forename: Francesca Maria Paola
authors.initials: FM
authors.lastname: Manzoni
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milano, Italy. lidia.pezzani@unimi.it.
authors.forename: Lidia
authors.initials: L
authors.lastname: Pezzani
authors.affiliation: UO Neuropsichiatria dell'Infanzia e dell'Adolescenza, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy. paola.ajmone@policlinico.mi.it.
authors.forename: Paola
authors.initials: P
authors.lastname: Ajmone
authors.affiliation: Department of Health Science, Medical Genetics, Università degli Studi di Milano, Milano, Italy. cristina.gervasini@unimi.it.
authors.forename: Cristina
authors.initials: C
authors.lastname: Gervasini
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milano, Italy. francescamenni@hotmail.com.
authors.forename: Francesca
authors.initials: F
authors.lastname: Menni
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milano, Italy. susanna.esposito@unimi.it.
authors.forename: Susanna
authors.initials: S
authors.lastname: Esposito
mesh_terms: D050882:CREB-Binding Protein / Q000235:genetics; D002648:Child; D050881:E1A-Associated p300 Protein / Q000235:genetics; D056726:Genetic Association Studies; D006801:Humans; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy
chemical_list: D050882:CREB-Binding Protein; C494363:CREBBP protein, human; D050881:E1A-Associated p300 Protein; C494360:EP300 protein, human