CHARGE Association

Newborns: 1 in 10,000

Respiratory failure in the neonate (due to choanal atresia)

Difficult airway (cleft lip and palate and tracheomalacia)

Aspiration risk

Congenital heart disease

If pt has respiratory insufficiency, consider subglottic stenosis.

Postop respiratory failure.

The term CHARGE was coined in 1981 to describe pts with coloboma, congenital heart defects, choanal atresia, retardation of growth and/or other development, g enital anomalies, and ear anomalies with deafness.

Traditionally diagnosed clinically, using Blake or Verloes criteria; now diagnosis can be confirmed by molecular genetic testing.

In the past, CHARGE was an association. However, it is now accepted as a genetic syndrome.

It shares many clinical features with velocardiofacial (22q11 deletion syndrome) and Kallmann syndrome.

Major features (features that are more specific to CHARGE):

• Coloboma of the iris and/or retina, with or without microphthalmia.

• Choanal atresia or stenosis.

• Characteristic CHARGE ear deformity.

• External ear: Cup-shaped ear with absent ear lobes.

• Middle ear: Stapes abnormalities and cochlear anomalies.

• CN dysfunction (oculomotor dysfunction, weak chewing, facial palsy, hearing difficulties, and swallowing problems).

Minor features (significant, but less specific for diagnosis of CHARGE):

• Hypothalamo-hypophyseal dysfunction, congenital diaphragmatic hernia, tracheoesophageal fistula, brain anomalies, hypotonia, developmental delay, kidney anomalies, genital hypoplasia, and lacrimal duct atresia.

• Characteristic face: Broad forehead, square face, and facial asymmetry.

• Scoliosis, obstructive sleep apnea, and webbed neck.

Rare features: Immune deficiency, limb anomalies, epilepsy, and anal atresia.

Four features almost always present with CHD7 mutation: external ear anomalies, cranial nerve dysfunction, semicircular canal hypoplasia, and delayed milestones.

Congenital heart defects present in 76% of CHD7-positive pts and 85% of clinical diagnosis of CHARGE syndrome.

CHD7 gene mutation

De novo mutations in almost all cases, with parent-to-child transmission only seen occasionally (autosomal dominant with variable expression)