Diagnosis and Management of CHARGE Syndrome

Clinical Evaluation

The American Academy of Pediatrics recommends ophthalmologic examination to assess for coloboma, a cardinal CHARGE feature, in patients with suspected CHARGE syndrome 1, 2
Comprehensive audiologic testing is essential to document the type and severity of hearing loss in patients with CHARGE syndrome, as recommended by the American Academy of Pediatrics 1, 2
The American College of Medical Genetics recommends genetic testing, including CHD7 gene sequencing, as the first-line test for CHARGE syndrome, with a positive result in approximately 60% of cases 4, 5

The American Academy of Pediatrics suggests that a renal ultrasound should be performed to screen for associated genitourinary anomalies in patients with CHARGE syndrome 2
MRI of the head is recommended to assess for semicircular canal abnormalities and neurological involvement in patients with CHARGE syndrome, as suggested by the American Academy of Neurology 3

The American Heart Association recommends that cardiac status should be evaluated to identify life-threatening cardiovascular malformations, especially critical in the first year of life 2
The American Academy of Otolaryngology recommends early amplification or cochlear implantation planning for patients with CHARGE syndrome to address dual sensory impairment risk 1, 2
Coordinated follow-up with multiple specialties, including otolaryngology, cardiology, ophthalmology, genetics, developmental pediatrics, and endocrinology, is crucial for comprehensive management of CHARGE syndrome, as recommended by the American Academy of Pediatrics 2, 3, 4, 5