New progress in diagnosis and treatment of Rubinstein-Taybi syndrome / 中华实用儿科临床杂志

ABSTRACT

Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental retardation disease involving multiple organ and system abnormalities.The main manifestations include broad thumbs and big toes, specific facial characteristics, developmental and mental retardation.In addition, it is also manifested as ocular abnormalities, hearing loss, repeated respiratory infection and dyspnea, gastrointestinal disorders, urogenital system disorders and severe constipation.It can be classified into 2 types RSTS1 (OMIM#180849) caused by the CREBBP gene mutation and RSTS2 (OMIM#613684) caused by the EP300 gene mutation, and most of them are found in the de novo truncated variation.Up to now, a clear diagnosis criterion for RSTS is lacked, which is mainly based on the comprehensive analysis of clinical and genetic results.The main treatment of RSTS is symptomatic and individualized treatment, while early intervention is helpful to improve the prognosis and the quality of life.This study aims to introduce the disease comprehensively, thus enhancing the recognition in RSTS.