What Are the Symptoms of CHARGE Syndrome?

Charge syndrome can be an inherited genetic disorder or caused by mutation. It causes a host of different birth defects, depending on the infant.

CHARGE syndrome is a genetic disorder with a cluster of features affecting many parts of the body. CHARGE is an acronym for coloboma of the eye (tissue in the eye is missing), heart anomalies, atresia of the choanae (back of the nasal passage is blocked), retardation of growth and development, genital anomalies, and ear anomalies.

Babies born with CHARGE syndrome may have severe and life-threatening birth defects.

Symptoms of CHARGE syndrome include:

• Coloboma of the eye (tissue in the eye is missing)
  • Other eye problems such as small eyeballs (microphthalmia)
• Heart anomalies
  • Congenital heart defects 
  • Tetralogy of Fallot (a specific heart defect in newborns)
• Atresia of the choanae (back of the nasal passage is blocked or narrowed)
• Retardation of growth and development
  • Developmental delays
  • Short stature 
• Genital anomalies
  • Genitourinary anomalies 
  • Small penis in males
  • Small labia in females
• Ear anomalies
  • Malformed bones of the inner ear
  • Hearing loss
  • Balance problems
  • Frequent ear infections
  • Fluid in the ears
  • Need for PE tubes (ear drains) until teens

Other symptoms of CHARGE syndrome include:

• Distinctive facial abnormalities
  • Asymmetrical, square face
  • Prominent forehead
  • Flattened cheekbones
  • Undersized jaw
  • Low-set, cupped ears 
  • Arched eyebrows
  • Large eyes
  • Occasional droopy eyelids
  • Prominent nasal bridge 
  • Small mouth
  • Cleft lip/cleft palate
• Hole between the trachea and esophagus (tracheoesophageal fistula)
• Cranial nerve abnormalities
  • Missing or decreased sense of smell
  • Swallowing difficulties
  • One-sided facial nerve paralysis
• Lack of puberty without hormone intervention
• Hand abnormalities (such as hockey-stick palmar creases, square palm, brachydactyly)
• Low muscle tone 
• Scoliosis
• Sloping shoulders
• Short neck

CHARGE syndrome is a genetic disorder caused by mutations in the CHD7 gene. In CHARGE syndrome, the mutated CHD7 gene results in a certain protein that is broken down too early, which disrupts chromatin remodeling – a process that alters how tightly DNA is packaged – and results in a disruption of gene expression.

A child needs further testing for CHARGE if they have at least one the major features of the syndrome: coloboma of the eye (tissue in the eye is missing), heart anomalies, atresia of the choanae (back of the nasal passage is blocked), retardation of growth and development, genital anomalies, and ear anomalies. 

Tests to help diagnose CHARGE syndrome or rule out other conditions include:

• Genetic testing 
• High-resolution karyotype (chromosome analysis) may be considered if results of less sensitive tests are normal
• Blood tests for kidney function: BUN, creatinine, electrolytes 
• Luteinizing hormone-releasing hormone (LHRH) and human chorionic gonadotropin (HCG) 
• Growth hormone levels 
• Complete blood count (CBC) 
• Immunology studies  
• Imaging Studies
  • Chest X-ray
  • Cranial ultrasonography
  • Head computed tomography (CT) scanning and/or magnetic resonance imaging (MRI), including the temporal bones
  • Barium swallow
  • Abdominal ultrasound
  • Skeletal survey
  • Echocardiography

Other tests to help diagnose CHARGE syndrome or rule out other conditions include:

• Electroencephalogram (EEG) to diagnose seizures.
• Immune system evaluation to exclude cellular immunodeficiency or lymphopenia and lymphocyte function defect 
• Electrocardiogram (ECG) to identify and/or exclude congenital heart defects.
• Serial audiometry and auditory brainstem evoked responses for hearing loss
• Visual evoked response and electroretinogram for vision problems/vision loss

Treatment for CHARGE syndrome begins at birth and includes:

• Providing a secure airway
• Stabilizing the patient
• Excluding major life-threatening congenital anomalies
• Transferring the patient to a specialist center with a pediatric otolaryngologist and other subspecialty services

Surgical treatment for CHARGE syndrome includes:

• Tracheostomy
• Myringotomy and tympanostomy tubes for middle ear infection (otitis media)
• Gastrostomy and fundoplication (stomach surgery) for feeding difficulties
• Cochlear implantation for hearing problems 

Genetic consultation is used for diagnosis, counseling, management, and coordination of services for patients with CHARGE syndrome.

Complications of CHARGE syndrome include:

• The need for lifelong extensive care 
• Hearing loss
• Vision loss
• Multiple missed developmental milestones

The death rate for children with CHARGE syndrome is highest in the first year of life and typically occurs in infants with severe birth defects. 

There is a 70% 5-year survival rate for patients with CHARGE syndrome, meaning, 70% of those diagnosed are alive in 5 years. 

Causes of death as patients age include infection, accidentally inhaling fluids or food (aspiration), and sleep apnea.