CHARGE syndrome
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A newborn with a coloboma and choanal atresia fails the newborn hearing screen. He also has a congenital heart defect and genital hypoplasia.
AD (mostly de novo); CHD7 gene (~70%)
CHARGE mnemonic:
- Coloboma (eye)
- Heart defects
- Atresia choanae
- Restriction of growth/development
- Genital hypoplasia
- Ear anomalies (hearing loss, unusual shape)
Other features: facial palsy, cleft lip/palate, TE fistula
- Clinical diagnosis supported by published criteria (major features: coloboma, choanal atresia, cranial nerve dysfunction, characteristic ear anomalies; with supportive minor features)
- Confirm with molecular testing of CHD7 (sequencing plus deletion/duplication analysis); identifies a pathogenic variant in the majority
- Evaluate for occult features: dilated eye exam, audiology, echocardiogram, and temporal bone or inner-ear imaging (semicircular canal hypoplasia is highly characteristic)
- Multidisciplinary care: ophthalmology, cardiology, otolaryngology (including airway/choanal atresia repair), and audiology
- Hearing habilitation (amplification or cochlear implant) and early developmental, feeding, and communication support
- Endocrinology evaluation for hypogonadotropic hypogonadism and growth; surveillance for feeding/swallowing and aspiration risk
"CHARGE": Coloboma, Heart defects, Atresia choanae, Restriction of growth, Genital hypoplasia, Ear anomalies
"CHARGEr plug face": Think of an actual electrical plug where you put your charger. The two vertical slots look like bilateral colobomas, the absent nose represents choanal atresia, and the absent ears represent ear anomalies. The heart runs on electricity, just like a plug.
CHARGE vs VACTERL: CHARGE has issues mostly ABOVE the neck (vs VACTERL, issues mostly BELOW the neck). The "V" in VACTERL is like a down arrow.