Management options for patients with O2HE syndrome include:

  • Geneticist for feed-back of the genetic result, recurrence risk and management coordination.
  • Nutritional support (enteral or parenteral) to cope with congenital diarrhea when associated with failure to thrive when presenting with diarrhea. A follow-up by a paediatric or adult gastroenterologist is mandatory in case with digestive manifestations.
  • Testing of the audition by an ENT must be performed early to detect perception deafness, in order to minimize the impact on learning abilities.
  • Annual liver function test must be performed, and a hepatologist is recommended as part of the follow-up in cases with cholestatsis.
  • Paediatric multidisciplinary team assessment for developmental delay, educational support when required.

These are recommendations in addition to standard health management. Other specialists are recommended in cases of malformations.