The following recommendations for management of patients with KBG syndrome are derived from Low et al, 2016:

  • Care coordinated by key clinician (hospital or community paediatrician or GP).
  • Investigations to consider in all patients: echocardiogram, palatal assessment with specialist team, hearing and vision assessment, specialist dental review.
  • Referrals and ongoing surveillance that may be required: neurology for seizures and movement disorders; cardiology if heart problem is identified; dietician for feeding issues; endocrinology for investigation if short stature is present; surgery for cryptorchidism and hernia; respiratory/sleep studies for apnoea; ENT/audiology for recurrent otitis media and/or hearing loss.
  • Management of learning and behaviour: Paediatric MDT assessment for developmental delay, ASD/ADHD and complex behavioural patterns, educational support where required.
  • Investigations that might be indicated in individual patients: skeletal survey/assessment of bone age, renal ultrasound, MRI brain scan.