Reflux
The most common and serious gastrointestinal problem in CdLS is reflux, also known as gastroesophageal reflux disease (GERD, or 'Gastroesophageal reflux disease').
In GERD, there is weakness of the muscles above the stomach that allows stomach acid to flow back into the oesophagus (esophagus) and, after some time, this causes increasingly severe pain (heartburn).
Recommendation(s)
Reflux
R32
Consider always gastro-oesophageal reflux disease (GORD) in any individual with CdLS owing to its frequency and wide variability in presentation, which includes challenging behaviour.
R33
Modification of nutrition and proton pump inhibitors (PPI) are the first-line treatments of GORD. Anti-reflux medications need to be used to their maximum dosage. Surgical interventions for GORD should be limited to those individuals with CdLS in whom nutritional and medical treatments have been unsuccessful or airway safety is at risk.
R34
If GORD symptoms persist, endoscopy should be strongly considered whilst an individual with CdLS is still in paediatric care.
R35
Surveillance for Barrett’s Oesophagus needs to be discussed with and decided together with the family, balancing the potential gain in health and burden for the individual with CdLS.
Our publications
GI Letter for Medical Care Provider
Feeding Issues in Individuals with CdLS
Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?
GI DISTRESS — MALROTATION, VOLVULUS, BOWEL OBSTRUCTION, PANCREATITIS
Analysis of a set of patients undergoing Nissen fundoplication
The Importance of GI Testing
Gastro-oesophageal reflux
Feeding and Gastroesophageal Reflux Disease (GERD)
