top of page

Health Considerations

Information is not intended to replace professional medical advice.

Medical
Considerations

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

273898482_1021827605357872_1046015259817553356_n.jpg

Orphanet: KBG Syndrome

​

Cardiology

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

  • Dysautonomia

Neurology

  • Seizures (some cases refractory to treatment)

  • Hydrocephalus

  • Central Apnea

  • Cysts

  • Tremors

  • Hypotonia

Endocrinology

  • Hypothyroidism

  • Adrenal Insufficiency

  • Empty Sella ​​​​​​​​​​​​​​​​​​

  • Premature Puberty

  • Short Stature/Impaired growth

Nephrology

  • Hydronephrosis

Craniofacial

  • Delayed fontanelle closure

  • Palate Deformities

Lungs

  • Asthma/Reactive Airway

GI

  • Constipation

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

  • Failure to Thrive

  • Reflux

  • Cyclic Vomiting Syndrome

  • Dysmotility

Dental

  • Enamel Hypoplasia

  • Macrodontia

  • Premature teeth loss in adults

  • Chalk teeth

Ears

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

  • Recurrent Otitis Media

Sleep

  • Excessive sleep including Narcolepsy

  • Sleep Disorders

  • Sleep Apnea

Genitourinary

  • cryptorchidism

  • ​

bottom of page