Charge Syndrome

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Originally described in the early 1980s, CHARGE is the acronym for coloboma, heart disease, atresia choanae, retarded growth and retarded development and/or central nervous system anomalies, genital hypoplasia, and ear anomalies and/or deafness. CHARGE is clinically diagnosed, so the frequency and certainty will depend on who is doing the evaluation. With the establishment of specific etiology or etiologies for CHARGE, the diagnostic criteria will likely improve. Most cases of CHARGE syndrome appear to be new mutations; the loci for many has been mapped to chromosome 8q12. The incidence is about 1:10,000 births, but high infantile mortality rates likely obscure the true incidence of this syndrome.

The original diagnostic criteria proposed by Pagon in 1981 included four of the six CHARGE features. It has also been suggested that at least one of the abnormalities be coloboma of the iris or choanal atresia. However, several features not included in the acronym are specific to CHARGE and rare in other conditions. Other criteria included (heart disease, retarded growth and retarded development, genital hypoplasia) are less specific to CHARGE and are frequently seen in other conditions. Many individuals have also been found with "partial," "atypical," or "incomplete" CHARGE.

Blake et al. proposed more detailed criteria in 1998, including major, minor, and other congenital anomalies found in this pleomorphic syndrome (Tables 6-8). Verloes has proposed modifications to this, based on examination of the specific embryological defects, and avoiding secondary and gender-dependent abnormalities (Table 9).

Several syndromes have clinical findings similar to CHARGE and should be considered in the differential diagnosis. These include the following:

1998 Revised Clinical Diagnostic Criteria for CHARGE Syndrome: Major Characteristics of CHARGE, Very Common in CHARGE, and Relatively Rare in Other Conditions

Finding Includes Frequency

Coloboma of the eye

Coloboma of the iris, retina, choroid, disc (not including colobomas of the eyelid); microphthalmos or cryptophthalmos

80-90%

Choanal atresia or stenosis

Unilateral/bilateral; bony or membranous. Atresia or stenosis

50-60%

Cranial nerve dysfunction

I Anosmia

Frequent

or anomaly

VII Facial palsy (unilateral or bilateral)

40%

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