CHARGE syndrome gastrointestinal involvement: from mouth to anus

Clin Genet. 2017 Jul;92(1):10-17. doi: 10.1111/cge.12892. Epub 2017 Feb 2.


CHARGE syndrome is an autosomal dominant disorder that occurs as a result of a heterozygous loss-of-function mutation in the chromodomain helicase DNA-binding (CHD7) gene, which is important for neural crest cell formation. Gastrointestinal (GI) symptoms and feeding difficulties are highly prevalent but are often a neglected area of diagnosis, treatment, and research. Cranial nerve dysfunction, craniofacial abnormalities, and other physical manifestations of this syndrome lead to gut dysmotility, sensory impairment, and oral-motor function abnormalities. Over 90% of children need tube feeding early in their life and many experience weak sucking/chewing, gastroesophageal reflux disease (GERD), and aspiration. The mainstay of treatment thus far has consisted of feeding therapy, GERD medications, Nissen fundoplication, gastrostomy/jejunostomy, and food texture limitation. Owing to the multitude of severe medical issues associated with this genetic disorder, GI involvement is often overlooked. Here, we report on five patients with CHARGE syndrome who manifested a range of severe GI and feeding difficulties.

Keywords: CHARGE syndrome; abnormal motility; cranial nerve dysfunction; feeding difficulties; gastroesophageal reflux disease (GERD); gastrointestinal.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Anal Canal / physiopathology
  • CHARGE Syndrome / genetics
  • CHARGE Syndrome / physiopathology*
  • Child
  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / physiopathology*
  • Feeding and Eating Disorders / genetics
  • Feeding and Eating Disorders / physiopathology*
  • Female
  • Gastrointestinal Diseases / genetics
  • Gastrointestinal Diseases / physiopathology*
  • Heterozygote
  • Humans
  • Male
  • Mouth / physiopathology
  • Mutation