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Health Considerations

Information is not intended to replace professional medical advice.


Thanks to medical advancements most children/adults with KBG Syndrome can live full and productive lives. Management is symptom based and often requires a multidisciplinary approach. This information is not intended to replace professional medical advice. 

KBG Syndrome

At Diagnosis Recommendations:

  • Echocardiogram

  • Palatal Assessment

  • Hearing Screens

  • Dental Assessment

  • Screening for developmental delays, Autism and behavioral anomalies

  • EEG

  • Assessment for feeding difficulties or failure to thrive

Additional assessments depend on individual presentation and symptoms. 

The following list is of diagnosed conditions as reported by patients and their families. As you can see there is an extensive list involving multiple body systems. This is not a complete list of all conditions that may affect an individual with KBG Syndrome.


It is important to remember that individuals with KBG Syndrome will NOT experience every condition. The presentation is variable and best managed by a symptom based approach. 

Management and Follow up

  • Educational Support

  • Monitoring of growth and puberty

  • Potential Therapy needs (PT, OT, ST)

  • Screening for hearing loss

  • Treatment of seizures if presented

Specialists that may be needed
  • Neurologist

  • Neuro-surgeon

  • ENT

  • Cardiologist

  • GI

  • Pulmonologist

  • Nephrologist

  • Hematologist

  • Immunologist

  • General Surgeon

  • Neuro-Developmental Physician

  • Psychologist/Psychiatrist

  • Endocrinologist

  • Urologist

  • Dentist/Orthodontist

  • Craniofacial specialist

  • Sleep Specialist

  • Opthamologist



  • Congenital Heart Defects: VSD, ASD, Aortic Dilatation​

  • Dysautonomia


  • Seizures (some cases refractory to treatment)

  • Hydrocephalus

  • Central Apnea

  • Cysts

  • Tremors

  • Hypotonia


  • Hypothyroidism

  • Adrenal Insufficiency

  • Empty Sella ​​​​​​​​​​​​​​​​​​

  • Premature Puberty

  • Short Stature/Impaired growth


  • Hydronephrosis


  • Delayed fontanelle closure

  • Palate Deformities


  • Asthma/Reactive Airway


  • Constipation

  • Feeding Difficulties including the occasional need for feeding tubes or TPN

  • Failure to Thrive

  • Reflux

  • Cyclic Vomiting Syndrome

  • Dysmotility


  • Enamel Hypoplasia

  • Macrodontia

  • Premature teeth loss in adults

  • Chalk teeth


  • Hearing Loss (All forms- Conductive, Mixed, Sensorineural)

  • Recurrent Otitis Media


  • Excessive sleep including Narcolepsy

  • Sleep Disorders

  • Sleep Apnea


  • cryptorchidism

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