What is CHARGE syndrome?

This page tells you all about CHARGE syndrome, including the origin of the name, the physical symptoms and behavioural signs.

Although CHARGE is a complicated condition, Sense knows many children and adults who, with the right support, have been able to overcome the barriers they faced and lead full and meaningful lives. 

You’ll also find links to more detailed information on many of the symptoms included here, and about the percentages of people with specific symptoms. 

Sections on this page

What is CHARGE syndrome?

CHARGE syndrome is a genetic syndrome with a known pattern of features.  It’s a complex condition, involving medical and physical disabilities that vary from person to person.

The early years can be medically very challenging. Babies with CHARGE syndrome may need to spend months in hospital.

Some features of CHARGE are not always present at birth.

How common is CHARGE syndrome?

CHARGE syndrome occurs in approximately one in 10,000-15,000 births worldwide.

Why is it called CHARGE syndrome?

The name CHARGE was first used in 1981 as an easy way to refer to a range of symptoms commonly seen in a number of children:  

  • Coloboma (an eye condition).
  • Heart defects. 
  • Atresia choanae (choanal atresia; nasal passages blocked by bone or tissue).
  • Retardation (delay) of growth and/or development. 
  • Genital abnormalities. 
  • Ear abnormalities. 

Although the name CHARGE is still used, it is now known that the condition has many more symptoms – with more than 120 now identified. 

Not everyone with the condition will develop all of these symptoms. 

Coloboma

  • A coloboma is fissure (crack) in the eye, usually at the back. 
  • It affects about 70–90% of people with CHARGE. 

Atresia choanae (choanal atresia)

  • The back of the nasal passage is blocked or narrowed on one or both sides, or doesn’t connect with the back of the throat (atresia). 
  • This affects 43% of people with CHARGE. 

Retardation (delay) of growth and/or intellectual development 

  • Around 75% of children with CHARGE are shorter and weigh less than average.
  • Delayed physical development is due to a lack of growth hormones and/or feeding difficulty. 
  • 70% of people with CHARGE have lower IQs, ranging from nearly average to severe intellectual disability. 

Genital abnormalities

  • Underdeveloped genitals are a tell-tale sign of CHARGE in males, but not so much in females. 
  • 80–90% of affected males have underdeveloped genitals (small penis). 
  • 15–25% of affected females have underdeveloped genitals (small labia). 

Ear abnormalities

  • 86% of affected people have visible deformities of the outer ear, such as floppy ears or missing earholes. 
  • 60–90% of affected people have inner ear problems, such as abnormal semicircular canals or nerve defects, which may result in hearing loss, balance problems, fluid in the ears and frequent ear infections. 
  • 97% of people have hearing loss. 

Other symptoms of CHARGE syndrome 

Cranial nerve abnormalities 

The cranial nerves are a set of 12 paired nerves in the back of the brain. Cranial nerve abnormalities in people with CHARGE syndrome include: 

  • Total loss or reduced sense of smell (anosmia): 90–100% of people. 
  • Swallowing difficulties: 60–80% of people. 
  • One-sided facial weakness or paralysis (facial palsy): 50–90% of people.

Development

Lack of puberty without hormone treatment: 80–99% of people. 

Eyes

One or both eyes may also be too small (microphthalmia) or missing (anophthalmia).

Face

  • Arched eyebrows. 
  • Asymmetrical (unbalanced), square face. 
  • Flattened cheekbones. 
  • Large eyes. 
  • Low-set, cupped ears.  
  • Occasional droopy eyelids. 
  • Prominent bridge on the nose.  
  • Prominent forehead. 
  • Undersized jaw. 

Hands

  • ‘Hockey-stick’ crease in the palm: a thick crease across the palm close to the fingers that widens like the end of a hockey stick. 
  • Square palm. 
  • Short fingers (symbrachydactyly, brachydactyly).

Heart

Tetralogy of Fallot (the mixing of oxygen-poor blood with the oxygen-rich blood being pumped out of the heart and into the blood vessels).

Mouth and throat

  • Cleft lip or cleft palate.
  • Hole between the trachea (windpipe) and oesophagus (gullet) (trachea-oesophageal fistula).
  • Small mouth. 

Muscle

Low muscle tone.  

Neck and shoulders

  • Sloping shoulders. 
  • Short neck. 

Spine

Scoliosis (curved spine).

Behavioural signs

Children with CHARGE syndrome often display behaviours that challenge.  This could include:

  • Repetitive behaviour – biting, pacing or talking. 
  • Sensation-seeking – for example, wanting bright colours or strongly flavoured food. 
  • Difficulty using self-control, especially when stressed or overwhelmed. 
  • Difficulty shifting attention and moving on to new things. 
  • Difficulty with focus and concentration. 

They could also be diagnosed with other conditions, like autism spectrum disorder or Tourette’s.

What is the life span for someone with CHARGE syndrome?

The early years are very challenging and there is an increased risk to mortality. 

However, whilst they may continue to be fragile, the life span of people with CHARGE syndrome can be normal. 

Children diagnosed with CHARGE syndrome have a 70% chance of being alive five years after diagnosis. 

As people with CHARGE get older, causes of death can include infection, accidentally inhaling fluids or food (aspiration), and sleep apnoea. 

Get support from Sense

We’re here for people with CHARGE syndrome and their families.

This content was last reviewed in April 2022. We’ll review it again next year.