Characteristics/Symptoms

Not every person with CHARGE syndrome has every physical characteristic and/or symptom.

Common Characteristics

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  • Coloboma (missing pieces of tissue in structures that form the eye) (80-90%)
    • Appear as notches or gaps in one of several parts of the eye, including
      • Iris (colored part of the eye)
      • Retina (specialized light-sensitive tissue that lines the back of the eye)
      • Choroid (the blood vessel layer under the retina)
      • Optic nerves (carry information from the eyes to the brain)
    • More severe forms include microphthalmos (small eye) or anophthalmos (missing eye)

  • Many are complex heart defects requiring more than one surgery

  • Choanal atresia (Narrowed or blocked passages between the nose and the throat) (50-60%)
    • Can be on one side or both side

  • Cranial nerve I (One) (90-100%)
    • Leads to missing or decreased sense of smell
  • Cranial nerve IX/X (Nine or Ten) (70-90%)
    • Leads to swallowing difficulties and possibly aspiration
  • Cranial nerve VII (Seven) (40%)
    • Leads to facial palsy (one side or both)

  • Outer ear anomalies (>50%)
    • Often a typical "CHARGE" ear that is short and wide with small lobes
    • Inner ear folds are prominent and the outer folds appear “snipped off” 
  • Middle ear anomalies (common)
    • Bones of the middle ear are malformed
    • Causes conductive hearing loss
    • Prevalence of severe to profound hearing loss is 50%           
  • Inner ear anomalies (90%)
    • Malformed cochlea and/or small or absent semicircular canals
    • Can cause hearing loss and balance problems

  • Hypotonia (90%) low muscle tone

Less Common Characteristics

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  • Cleft lip with or without cleft palate (20%)

  • Tracheo-esophageal fistula (abnormal opening between trachea and esophagus) (15-20%)
    • Esophageal atresia (esophagus is not open)

  • Small kidney
  • Missing kidney
  • Misplaced kidney
  • Reflux

  • Males (50%)
  • Females (25%)
  • Both may have lack of puberty without hormone intervention (90%)

  • Growth deficiency (15%)

  • 70% have short stature

  • Square face
  • Broad prominent forehead
  • Arched eyebrows
  • Large eyes
  • Occasional droopy lids
  • Prominent nasal bridge and thick nostrils
  • Prominent nasal columella (space between nostrils)
  • Flat midface
  • Small mouth
  • Small chin
  • Facial asymmetry with or without facial palsy

  • Perseverative behavior in younger children (repetitive or stuck on one thing)
  • OCD in older children and adults

Other Findings

  • Chronic ear problems (85%)
  • Sloping shoulders (common)
    • Underdeveloped shoulder muscles
  • Small or missing pectoral (high in chest) muscles
  • Short neck
  • Limb/skeletal anomalies
    • Absent thumb
    • Extra fingers
    • Vertebral abnormality
  • Central Nervous system (CNS) abnormalities:
    • Hydrocephalus
    • Seizures
  • Umbilical hernia (15%)
  • Nipple anomalies (occasional)
    • Extra, missing, or misplaced nipples
  • Scoliosis (common)