How Do Doctors Diagnose CHARGE Syndrome?

  • Review of your child’s medical and family history
  • Physical exam to check for signs and symptoms of CHARGE syndrome
  • Genetic testing (usually done with a blood test)
  • Brain imaging with an MRI scan usually shows distinctive features
  • Heart imaging
  • Kidney imaging

How Do Doctors Treat CHARGE Syndrome?

There is no specific medicine for CHARGE syndrome. Every person with CHARGE syndrome has different symptoms. Your child’s care team will talk with you to make a treatment plan based on his symptoms and medical needs.

Rev. 8/2020. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.