Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics

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. Discussion 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. Summary 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.

Caregivers of individuals with Rubinstein–Taybi syndrome

PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients

Diagnosis and management of Cornelia de Lange syndrome: first

Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric

IJMS, Free Full-Text

PDF) New insights into genetic variant spectrum and genotype

PDF) The behavioral phenotype of Rubinstein–Taybi syndrome: A

Figure 5 from Rubinstein-Taybi Syndrome: A Case Report

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian

PDF] Rubinstein-Taybi Syndrome Associated with Pituitary

Rubinstein–Taybi syndrome in diverse populations - Tekendo

PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

Rubinstein–Taybi syndrome - Wikipedia

A novel CREBBP mutation and its phenotype in a case of Rubinstein

The natural history of adults with Rubinstein-Taybi syndrome: a