Year: 2026
Type: article
Study design: Observational Study
Abstract: Rubinstein-Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise, but no large cohort has examined these symptoms in detail. This study aimed to characterize gastrointestinal and nutritional comorbidities in children with Rubinstein-Taybi syndrome seen at a tertiary pediatric center between 2013 and 2023. Among 85 affected patients, 46 (54%) reported gastrointestinal symptoms, and 31 (66%) were evaluated in the Gastroenterology clinic. Symptoms frequently predated the genetic diagnosis. Constipation was most common, followed by reflux symptoms, dysphagia, vomiting, and feeding intolerance or poor weight gain. Most patients underwent at least one diagnostic evaluation, including upper gastrointestinal imaging, video swallow studies, or esophagogastroduodenoscopy. Nearly half required gastrostomy tube support, typically in later childhood, with subsequent improvements in weight and body mass index z-scores and successful transitions to partial or full oral intake in some cases. Oral-fed patients demonstrated modest growth improvement over shorter follow-up intervals. These findings highlight a substantial gastrointestinal disease burden in Rubinstein-Taybi syndrome and underscore the importance of early recognition and multidisciplinary management.
DOI: 10.1002/ajmg.a.70103
Language: English
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $4,710
OpenAlex ID: W7130958599