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Signs & Symptoms

Major Features of CHARGE Syndrome (very common in CHARGE and relatively rare in other conditions). See the specific linked sections in the Management Manual for Parents for additional information about features.

Major Features of CHARGE Syndrome

These are very common in CHARGE and relatively rare in other conditions.

FeatureIncludesFrequency
Coloboma of the EyeColoboma (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
Coloboma of the Eye
80%-90%
Choanal Atresia or StenosisThe 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.
Unilateral atresia or stenosis can be difficult to diagnose
Choanal Atresia
50%-60%
Cranial Nerve Abnormalities
Swallowing and Feeding
I – Missing or decreased sense of smell90-100%
IX/X – Swallowing difficulties, aspiration
Swallowing Difficulties
70%-90%
VII – Facial palsy (one side or both)
Facial Palsy
40%
CHARGE Outer EarShort, 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
CHARGE Ears
>50%
CHARGE Middle EarMalformed bones of the middle ear (ossicles): CAUSES CONDUCTIVE HEARING LOSSCommon
CHARGE Inner EarMalformed cochlea (Mondini defect); small or absent semicircular canals: CAUSE HEARING LOSS AND BALANCE PROBLEMS
Cochlea Diagram
90-95%

 

Minor Characteristics of CHARGE

Significant, but more difficult to diagnose or less specific to CHARGE

FeatureIncludesFrequency
Heart DefectsCan be any type, but many are complex, such as tetralogy of Fallot75%
Cleft Lip +/- Cleft PalateCleft lip with or without cleft palate, cleft palate, submucous cleft palate
Repaired Cleft Lip
20%
TE FistulaEsophageal atresia, Trancheo-esophageal fistula (TEF), H-shaped TEF15-20%
Kidney AbnormalitiesSmall kidney, missing kidney, misplaced kidney, reflux40%
Genital AbnormalitiesMales: small penis, undescended testes50%
Females: small labia, small or missing uterus25%
Both: lack of puberty without hormone intervention90%
Growth DeficiencyGrowth hormone deficiency15%
Other short stature70%
Typical CHARGE FaceSquare 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
Typical CHARGE Face
Palm creaseHockey-stick palmar crease
Hockey Picture
50%
CHARGE Behavior Perseverative behavior in younger individuals, obsessive compulsive behavior (OCD) in older individuals50%

 

Other Features of CHARGE

Consistent with CHARGE, possibly medically significant, but less helpful in making a diagnosis

Every feature varies from severe to absent in different children.  There is no one feature that must be present to make a diagnosis of CHARGE or is found in all children with CHARGE. Every person with CHARGE has a unique collection of features.

FeatureIncludesFrequency
Chronic Ear ProblemsLots of infections, fluid in the ears, PE tubes until teens85%
Sloping ShouldersUnderdeveloped shoulder muscles, small or missing pectoral muscles, short neck
Sloping Shoulders
Common
Limb/SkeletalAbsent thumb, extra fingers, vertebral abnormalities?
CNS AbnormalitiesHydrocephalus, seizures, abnormalities seen on MRI or CTOccasional
Thymus or Parathyroid AbnormalitySmall or missing thymus, decreased immune systemRare
OmphaloceleOmphalocele or umbilical hernia15%
Nipple AnomaliesExtra, missing or misplaced nipplesOccasional
HypotoniaLow muscle tone
Hypotonia
90%
ScoliosisUsually due to low muscle toneCommon