From the Research
Weaver syndrome can cause gastrointestinal (GI) issues in some affected individuals, though these are not considered primary features of the condition. Gastrointestinal problems that may occur include feeding difficulties in infancy, gastroesophageal reflux disease (GERD), and constipation. These GI manifestations are generally considered secondary complications related to the syndrome's broader effects on growth and development. Weaver syndrome is primarily characterized by accelerated growth, advanced bone age, distinctive facial features, and developmental delays. The condition is caused by mutations in the EZH2 gene, which affects how cells develop and specialize throughout the body, as shown in a study published in the American Journal of Human Genetics in 2012 1. Management of GI issues in Weaver syndrome typically involves standard treatments for the specific symptoms present, such as acid reducers for GERD or dietary modifications for constipation. Some studies have shown that proton pump inhibitors, such as lansoprazole, can be effective in treating GERD and other GI issues, with one study published in the Archives of Internal Medicine in 2000 showing that lansoprazole was more effective than ranitidine in relieving symptoms of nonerosive reflux disease 2. Another study published in Digestive Diseases and Sciences in 1999 found that inhibition of gastric secretion can relieve diarrhea and postprandial urgency associated with irritable bowel syndrome or functional diarrhea 3. Parents of children with Weaver syndrome should monitor for signs of GI discomfort and consult with their healthcare provider about appropriate interventions, as addressing these issues can improve overall quality of life for affected individuals. Key points to consider in managing GI issues in Weaver syndrome include:
- Monitoring for signs of GI discomfort
- Consulting with a healthcare provider about appropriate interventions
- Using standard treatments for specific symptoms, such as acid reducers for GERD or dietary modifications for constipation
- Considering the use of proton pump inhibitors, such as lansoprazole, for treatment of GERD and other GI issues.