CHARGE Syndrome Workup

Updated: Mar 25, 2022
  • Author: Megan Ehlinger Boothe, MD; Chief Editor: Maria Descartes, MD  more...
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Laboratory Studies

See the list below:

  • CHD7 mutation analysis is diagnostic in more than 90% of individuals referred with presumptive CHARGE syndrome. If the CHD7 sequencing is normal, this should be followed by del/dup analysis and then high-density microarray

  • High-resolution karyotype (chromosome analysis) may be considered if the microarray result was normal.

  • BUN, creatinine, electrolytes - Evaluate and monitor renal function and exclude hypocalcemia (DiGeorge syndrome).

  • Luteinizing hormone-releasing hormone (LHRH) and human chorionic gonadotropin (HCG) - Perform these tests to evaluate the pituitary gonadal axis in cases of hypogenitalism.

  • Growth hormone levels - Obtain growth hormone levels to exclude growth hormone deficiency contributing to growth retardation.

  • CBC and immunology studies - Immunodeficiency has been reported and is primarily T-cell based but may also be humoral, even appearing like Omenn syndrome. [41, 42]


Imaging Studies

Chest radiography

Perform chest radiography to exclude cardiopulmonary pathology and to document normal lung volume and cardiac shape and size in persons with respiratory distress, especially in the newborn period.

Cranial ultrasonography

Perform this study in the immediate neonatal period to exclude major malformations of the brain.

Head CT scanning and/or MRI, including the temporal bones

Perform computed tomography (CT) scanning and/or magnetic resonance imaging (MRI) to exclude cerebral malformation and cerebral atrophy and to exclude defective formation of the ossicles of the middle ear. MRI of the brain may reveal cerebral atrophy, midline brain defects (eg, agenesis of corpus callosum), and forebrain anomalies, particularly arrhinencephaly. CT scanning of the temporal bone reveals partial or complete semicircular canal hypoplasia. Ideally, evaluate the internal ear in later infancy or early childhood, when the ear is more fully formed.

A retrospective CT/MRI scan study by Mahdi and Whitehead of 15 patients with CHARGE syndrome suggested that clival pathology is a universal manifestation of the condition. Thirteen patients (87%) were found on imaging to have either a partial or complete coronal clival cleft, while clival hypoplasia, with no clefting, was identified in the remaining two patients (13%). [43]

Barium swallow

Perform this study to diagnose swallow dysfunction and/or esophageal dysmotility and tracheal aspiration.

Abdominal ultrasonography

Perform abdominal ultrasonography to exclude renal anomalies.

Skeletal survey

Survey the skeleton to exclude skeletal anomalies.


Perform echocardiography to identify or exclude congenital cardiac defects.


Other Tests

See the list below:

  • Electroencephalogram: Perform EEG to diagnose seizures.

  • Immune system evaluation: Evaluate the immune system to exclude cellular immunodeficiency or lymphopenia and lymphocyte function defect (DiGeorge syndrome overlap).

  • ECG: Perform to identify and/or exclude congenital cardiac defects.

  • Serial audiometry and auditory brainstem evoked responses

    • Document the type and severity of conductive and sensorineural hearing loss.

    • A characteristic wedge-shaped response is reported.

  • Visual evoked response and electroretinogram

    • Regular ophthalmologic visits are important.

    • Identify and document the severity of visual loss.

    • Visual evoked response (VER) and electroretinogram (ERG) are abnormal but do not correlate with the extent or the localization of the coloboma.

    • Due to cognitive defects, administering tests of visual acuity is difficult; hence, more sophisticated tests (eg, VER, ERG) that do not depend on patient behavior responses are appropriate.