CHARGE syndrome is a rare genetic disorder that manifests in a series of birth defects that can include vision and hearing loss. It occurs in approximately 1 out of every 9,000 to 10,000 births. People are typically diagnosed with CHARGE based on the presence of medical features of the syndrome. There is a genetic test to identify the gene associated with the syndrome, but the test is not always accurate as 2/3 of people with CHARGE receive a false negative result. Children born with CHARGE syndrome are affected differently. Many experience extensive medical and physical difficulties while others are more mildly impacted. Over the past decade, CHARGE syndrome has been identified as the leading single syndrome associated with deafblindness in school age children. CHARGE is an acronym representing the clinical features that were historically used to identify children. Those diagnostics have changed over time, but the acronym CHARGE remains. There are several clinical and diagnostic features of CHARGE including:
Primary Features
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Coloboma of the eye – A cleft or hole in one of the structures of the eye that may be present in one or both eyes. This may cause vision loss.
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Choanal Atresia or stenosis – bony growth in the nose that causes a narrow or blocked passageway.
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Cranial Nerve Abnormality - Swallowing problems, facial palsy.
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Ear anomalies - Outer ears have a distinctive look including no ear lobes, floppy, typically short and wide. The middle ear may have malformed bones causing a conductive hearing loss. The inner ear may have atypical semicircular canals (causing balance problems) and a malformed cochlea.
Other Features
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Heart Defects
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Genital abnormalities
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Growth deficiency
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Cleft lip/palate
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TE fistula (an esophageal abnormality)