Which syndrome includes coloboma, choanal atresia, and ear abnormalities?

• A. Potter syndrome
• B. CHARGE syndrome
• C. VACTERL association
• D. Down syndrome

Answer: (B)

CHARGE syndrome is defined by a constellation of birth defects that often center on eye, ear, and airway development. The presence of coloboma together with choanal atresia is highly characteristic, and ear abnormalities with hearing loss are common in this condition. The acronym CHARGE—Coloboma, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital abnormalities, Ear abnormalities—highlights the typical pattern you should recognize. When you see a newborn with both a coloboma and nasal airway obstruction from choanal atresia, CHARGE is the most likely diagnosis, and genetic testing for CHD7 can confirm it.

Potter sequence arises from oligohydramnios and features pulmonary hypoplasia and limb or facial abnormalities, not the specific eye and nasal airway findings here. VACTERL association involves a set of defects across several organ systems but does not center on coloboma with choanal atresia. Down syndrome has its own characteristic facial features and systemic findings due to trisomy 21, which do not routinely include this eye-nasal-ear pattern.