Major Features of CHARGE

Certain behaviour and physical features are very common in CHARGE Syndrome and relatively rare in other conditions.

FEATURE INCLUDES FREQUENCY
Coloboma of the eye Coloboma (sort of like a cleft) of the iris, retina, choroid, macula or disc (not the eyelid); microphthalmos (small eye) or anophthalmos (missing eye): CAUSES VISION LOSS. 80-90%
Choanal atresia or stenosis The choanae are the passages that go from the back of the nose to the throat. They can be narrow (stenosis) or blocked (atresia). It can be unilateral (one-sided) or bilateral (both sides), bony or membranous.
U
nilateral atresia or stenosis can be difficult to diagnose.
50-60%
Cranial nerve abnormality I – Missing or decreased sense of smell. 90-100%
IX/X – Swallowing difficulties, aspiration. 70-90%
VII – Facial palsy (one side or both). 40%
CHARGE outer ear Short, wide ear with little or no lobe, “snipped off” helix (outer fold), prominent antihelix (inner fold) which is discontinuous with tragus, triangular concha, decreased cartilage (floppy), often stick out, usually asymmetric. >50%
CHARGE middle ear Malformed bones of the middle ear (ossicles): CAUSES CONDUCTIVE HEARING LOSS. Common
CHARGE inner ear Malformed cochlea (Mondini defect); small or absent semicircular canals: CAUSE HEARING LOSS AND BALANCE PROBLEMS. 90%

 

Minor features of CHARGE syndrome: Significant, but more difficult to diagnose or less specific to CHARGE syndrome

FEATURE INCLUDES FREQUENCY
Heart defects Can be any type, but many are complex, such as tetralogy of Fallot. 75%
Cleft lip +/- cleft palate Cleft lip with or without cleft palate, cleft palate, submucous cleft palate. 20%
TE fistula Esophageal atresia, Trancheo-esophageal fistula (TEF), H-shaped TEF. 15-20%
Kidney abnormalities Small kidney, missing kidney, misplaced kidney, reflux. 40%
Genital abnormalities Males: small penis, undescended testes.
Females: small labia, small or missing uterus .
Both: lack of puberty without hormone intervention.
50%
25%
90%
Growth deficiency Growth hormone deficiency. Other short stature. 15-70%
Typical CHARGE face Square face with broad prominent forehead, arched eyebrows, large eyes, occasional ptosis (droopy lids), prominent nasal bridge with square root, thick nostrils, prominent nasal columella (between the nostrils), flat midface, small mouth, occasional small chin, larger chin with age. Facial asymmetry even without facial palsy 70-80%
Palm crease Hockey-stick palmar crease 50%
CHARGE behaviour Perseverative behaviour in younger individuals, obsessive compulsive behaviour (OCD) in older individuals >50%

No one feature is required to make a diagnosis of CHARGE.

Every feature varies from severe to absent in different children.