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Updated: 8th September, 2007

CHARGE Syndrome / Association
Caution! This text is rather medical. If you don't understand something, never minds - me too.

CHARGE Association (or Syndrome) is an acronym specifying children with specific configuration of defects when they are born.

Acronym is composed of: "C" - coloboma, "H" - heart defects; "a" - atresia choanae (stenosis); "R" - retardation of growth and/or developmental delay; "G" - genitourinary problems; "E" - ear abnormalities.

This type of characteristics was first described by Hall in 1979 [1], but acronym 'CHARGE' was used first in 1981 [2].

Acronym CHARGE

C = Coloboma

a coloboma is a cleft or failure to close of the eyeball. This can result in a keyhole shaped pupil and/or abnormalities in the retina or optic nerve. Colobomas of the retina or optic nerve may result in significant vision loss, especially visual field defects in the upper half of the visual field. Visual acuity may also be affected, resulting in nearsightedness or farsightedness. Surgery cannot correct ocular colobomas, but glasses often help with visual acuity. Children with CHARGE Syndrome are often very sensitive to light. Many are more comfortable with sunglasses, even indoors.

Sometimes the eyes may be small.

These problems may cause a range of difficulties which include blindness, low vision, loss of visual field, a need to wear glasses, difficulty coping with bright light, and sometimes a risk of further eye problems such as retinal detachment.

C = Cranial nerves

About 40% of children with CHARGE Syndrome have facial palsy (cranial nerve VII), and at least 30% have swallowing problems (cranial nerve IX/X). Children with facial palsy may be more likely to have sensorineural hearing loss (cranial nerve VIII). Swallowing problems often last for years, but typically resolve by age 7 or 8 years.

H = Heart

Heart defects may be of various kinds.

About 80% of children with CHARGE Syndrome are born with a heart defect. Many are minor defects, but many require treatment or surgery. Some of the complex heart defects seen in CHARGE Syndrome (e.g. Tetralogy of Fallot) can be life threatening.

a = Atresia of the choanae

The choanae are the passages from the back of the nose to the throat which make it possible to breathe through the nose. In children with CHARGE Syndrome, these passages may be blocked (atresia) or narrowed (stenosis). Surgery can often correct these defects. Multiple surgeries are often required.

R = Retardation of growth and/or development

Although most children with CHARGE Syndrome are average size at birth, many will become small due to nutrition problems, heart problems, or growth hormone deficiency. Some catch up after the severe medical problems and feeding problems have resolved.
Most children with CHARGE Syndrome will be developmentally delayed. Often, this is primarily due to sensory deficits (vision loss and/or hearing loss) and frequent hospitalizations as infants. Some children with CHARGE Syndrome will be mentally retarded, with or without brain abnormalities.
Historically, the medical profession considered mental retardation a characteristic feature of CHARGE Association. Recent literature suggests this may now be coming to be seen as an outcome of the other combined anomalies rather than as an integral anomaly of the Association itself. [3] [4] Evidence from families and involved professionals suggests that people with CHARGE Association cover the whole spectrum of intellectual ability from severe retardation through to normal or even high intelligence.
Retarded growth and development may become evident as the child matures; most of the people identified as having CHARGE Association are below the third percentile of physical growth norms. There are multiple factors leading to retarded growth including severe feeding difficulties, reflux, breathing problems, chest infections, and multiple surgical procedures with repeated and prolonged hospitalisation.

G = Genital and urinary abnormalities

Many boys with CHARGE Syndrome have a small penis and/or undescended testes. Girls may have small labia. Boys or girls with CHARGE Syndrome may require hormone therapy to achieve puberty. Boys and girls may have kidney or urinary tract abnormalities, especially reflux.

E = Ear abnormalities and hearing loss

Most children with CHARGE Syndrome have unusual external ears, including short, wide ears with little or no earlobe, often with a "snipped off" appearance to the helix (outer fold of the ear). The ears may be soft due to floppy cartilage. Keeping a hearing aid in place is often difficult.
Hearing loss (conductive and/or nerve) is present in 80 - 85% of children with CHARGE Syndrome, ranging from mild hearing loss to profound deafness. The hearing loss can be difficult to evaluate due to frequent ear infections, presence of other medical conditions, and general difficulty of testing. Many children have additional conductive losses due to frequent ear infections. Many children also have difficulty with balance.
middle ear (bone malformations or chronic glue-ear infections), The most common form of hearing loss found in people with CHARGE Association is mixed i.e. a conductive loss because of middle-ear problems combined with a sensori-neural loss because of problems with the cochlea. 

Other symptoms

Children with CHARGE Syndrome may have other birth defects, including

  • Poor immune response.
  • Some children are difficult to sedate for testing.
  • There may be some behavior problems associated with CHARGE Syndrome, but not enough information is available at this time.
  • Malformed or absent semi-circular canals which means that the balance sense will be affected or absent.
  • Before they can walk, children with CHARGE often move by lying flat on their backs and scooting headfirst or by five-point crawting (i.e. two arms, two legs and forehead) backwards or forwards.
  • Once walking, people with CHARGE often show the characteristic pattern of feet rather wide apart, knees slightly bent. feet being planted firmly on the ground and the upper body and head slightly rolling from side to side. This characteristic gait is thought to result from a combination of balance problems, visual impairment, and poor muscle tone.
  • Facial Palsy: This is a type of paralysis that can leave the face looking flat and expressionless. The facial nerve that suppiles the facial muscles does not work properly. This usually affects just one side of the face. This distinctive feature may become more or less apparent in people with CHARGE as they grow and develop. It has implications for communication because of the way that facial expressions and speech may be affected.
  • Immune System Deficiency: This is seen in children who show an overlap with DiGeorge Sequence. They have an increased risk of infection.
  • Larynx/Pharynx Problems: Children with facial palsy are more likely to have structural anomalies in the region of the larynx and pharynx. Ths may lead to swallowing problems and aspiration of food andlor saliva.
  • Micrognathia: This means a small lower jaw that may contribute to feeding difficulties, and may be another factor to consider in the development of speech.
  • Sensory Defensiveness: Difficulties in coping with stimulation from environments that are quite normal and not at all over-stimulating seem to be a feature of many people with CHARGE. It is likely that people with CHARGE encounter difficulties with all their senses.
  • Sleep Apnoea: Disturbed sleep patterns due to periods of arrested breathing are coming to be seen as a feature of infants with CHARGE.
  • Swallowing Abnormalities: Some problems with co-ordinating breathing and swallowing can be attributed to damage to the ninth and tenth cranial nerves. Additional contributory factors may be breathing difficulties, hypotonia, weak or malformed oesophagus and trachea, and sensory defensiveness.

Causes and prognosis


CHARGE Association is usually sporadic with no other affected individuals in the family. There are rare reports of multiple affected individuals in a family. Recurrence risk is low, probably 1-2%. The risk of an affected individual having an affected child may be much higher.

The exact cause of CHARGE Association is still unknown and research suggests a variety of factors which may induce the irregularities which are present in this condition. The majority of cases are thought to be sporadic with no obvious evidence of genetic involvement. There is some evidence in the literature of cases where certain characteristics of CHARGE have been inherited, and also some evidence to suggest chromosome deletion in some cases. Reference in the literature, and many parents of people with CHARGE Association, suggest the possibility of linking CHARGE with exposure to certain chemicals (pesticides, fungicides, and wood preservatives) but this has not been proven. 

Affected Population

The incidence of CHARGE is about 1/10,000-1/12,000 births. It is probably very underdiagnosed. The frequency is the same in males and females. CHARGE has been seen in all races.


Choanal atresia is life-threatening because young infants cannot establish the habit of breathing through their mouths. Prognosis is based on the severity of factors. For example, a severe case with major developmental delay and growth retardation has a poor prognosis while one with surgically correctable malformations may lead a happy, healthy life.

Therapies and outcome

Very little is known about the life expectancy of people with CHARGE Association, nor about the likelihood or nature of late onset complications. One difficulty is that this is a comparatively recently identified condition; if people were born with CHARGE Association well before 1982 it is unlikely that they will be identified as having the condition in their adult years. Another possible explanation is that babies born with CHARGE Association generally died because medical science was unable to support them through the first immensely complex and difficult years of life; nowadays we have the technology to achieve this in most cases.

Although these children have many problems, they can survive and become healthy, happy citizens. Many of the structural abnormalities (choanal atresia, heart defects, cleft lip, etc.) can be surgically corrected. In any child in whom CHARGE is suspected, complete cardiac (heart), ophthalmological (eye), and audiological (hearing) evaluations should be performed, as well as abdominal ultrasound (kidney), and chromosome evaluation.

Appropriate therapies and educational intervention must take into account any hearing and vision loss which is present. The intelligence of children with CHARGE is often underestimated due to the combined hearing and vision problems. Management should be by a multidisciplinary team and coordinated by a single person, if possible.

Most of the literature on CHARGE is medical and until five or six years ago showed little understanding of the educational needs or potential for development of children with CHARGE Association. This has improved in more recent literature and, as explained above, with growing awareness of the importance of early educational intervention and of the need for appropriate educational approaches, it should become increasingly rare for 'mental retardation' to be automatically ascribed to young children with CHARGE Association.

To date, no predictive factors regarding the developmental prognosis of CAS infants have been identified. Because of their multiple complex medical/surgical issues, many initial care providers overestimate the severity of developmental disabilitiy in the absence of reliable data. Only by careful, prospective follow-up of a population of CAS infants that have been ascertained through the CPSP can their developmental profile be defined and compared to the reported literature. The increase in paternal age of CAS children has been recognized and needs to be further established, as does the concern with pesticides as teratogens.

Other information

CHARGE Syndrome Foundation, Inc.

The Wide World of Physical Therapy, Brad Lipscomb, MS, PT,

CHARGE Family Support Group


[1] Hall strong. Choanal atresia and associated multiple anomalies. J Pediatr 1979;95(3):395-8.

[2] Pagon RA, Graham JM, Zonana J and Youing SL (l981). "Congenital Heart Disease and Choanal Atresia with Multiple Anomalies" Journal of Paediatrics 99 223-227.

[3] Blake KD and Brown D (1993). "CHARGE Association Looking at the Future - the Voice of a Family Support Group" Child: Care, Health and Development 19 395-409.

[4] Blake D, Russell-Eggitt IM, Morgan DW, Ratcliffe JM and Wyse RKH (1990). "Who's in CHARGE? Multi-Disciplinary Management of Patients with CHARGE Association" Archives of Diseases in Childhood 65 217-223.