What Is CHARGE Syndrome? 

CHARGE syndrome (CS) refers to a pattern of birth defects with a wide range of conditions that can differ from child to child. It is rare and affects one in each 150,000 births worldwide. CS is a very complex syndrome which often involves:

  • Colobomas (a hole in the structures of the eye)
  • Heart defects
  • Atresia of the nasal choanae (connection between the back of the nose and throat)
  • Restriction of development
  • Genitourinary abnormalities
  • Ear and hearing anomalies (thus the acronym CHARGE)  

Many other conditions can be linked with CS such as:

  • Cleft lip and palate
  • Laryngomalacia (underdevelopment of the upper airway causing breathing problems)
  • Endocrine abnormalities
  • Vision and hearing difficulties (CS is the leading cause for babies born deaf and blind)
  • Swallowing problems  

The medical challenges for children with CS can seem overwhelming and hard to manage. Having a good understanding of the issues and the supports for children and families can help children with CS reach their potential and have a great quality of life.