Only 60 patients with MEF2C pathogenic variant have been reported in the literature so far. The oldest patient reported in the literature was 18 years old.

A key clinician (hospital or community paediatrician or GP) should oversee care so that development and behaviour can be monitored and the best help can be given early if required.

The following recommendations for management of people with MEF2C haploinsufficiency syndrome are:

  • Paediatric MDT assessment for developmental delay, ASD/ADHD and complex behavioural patterns, educational support where required;
  • Genetic counselling for explanation of the genetic result, recurrence risk and for the management’s coordination;
  • EEG where seizures;
  • Brain MRI scan;
  • Hearing review;
  • Eyesight (ophthalmology) review;
  • Baseline echocardiogram.

Other referrals and ongoing surveillance may be required:

  • Neurologist assessment for seizures and developmental delay;
  • Psychiatrist assessment for behaviour anomalies;
  • Cardiologist assessment if heart problem is identified; dietician for feeding issues;
  • Immunologist assessment if recurrent infections;
  • Dermatologist assessment if haemangiomas and vasculature anomalies,
  • Standard sonogram for any jugular fossa abnormality.