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.

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 adult

SUBMITTER: Milani D 

PROVIDER: S-EPMC4308897 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature