What is CHARGE?

This page contains a list of problems and anomalies that have been associated with the condition known as CHARGE. However, this is more a guide rather than a medical paper. For more detailed information on a particular aspect an appropriate professional should be consulted.

Special Note:

It is important to stress that a person with CHARGE will not have all of the anomalies listed below. They are likely to have some of the main anomalies covered in Section 1 and some of the other anomalies in Section 2.

The cause of CHARGE is still unknown. It is a rare condition that can affect different parts of the body. The most common problems are with the eyes, heart, nose, genitalia, ears and with growth. Not all of these are affected in every person with the condition, nor are these problems always severe.

It is not unusual for some of these anomalies to be overlooked or not investigated, even after the diagnosis of CHARGE has been made. Some of these anomalies are more common than other ones, and some are common to other conditions, but if there is any suspicion that a person has CHARGE then the list will prove helpful to them, their families, and any professionals involved.

Section 1 - The name 'CHARGE'

'CHARGE' is made up from the initial letters of some of the most common features seen in this condition:

C    Coloboma

This is an eye defect caused by failure of the eye to form properly so that part of the structure of the eye is missing. This can range from a so-called "keyhole" pupil at the front of the eye, to very large defects at the back of the eye. In some cases the defect may be so large that it results in a smaller or even absent eye rather than simple coloboma. 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.

H    Heart Defects

A variety of different heart defects are associated with CHARGE some of which require surgery.

A    Atresia of the Choanae

One or both of the nasal passages may be blocked or unusually narrow at birth. Sometimes repeated surgeries may be needed to open and maintain these passages.
(See aso: Cleft Lip/Palate)

R    Retardation of growth and developmental delay

Growth hormone problems appear to be rare in CHARGE and it is thought that retarded growth results primarily from feeding difficulties and later on from lack of puberty. People with CHARGE cover the whole spectrum of ability and disability, and developmental delay is thought to result in many cases from sensory impairments, chronic health problems, and balance problems.

G    Genital anomalies

These affect the external genitalia and so are only easily identifiable in males. Common problems are undescended testicles or small penis. Some females with CHARGE are born with small labia (outer vaginal lips).

E    Ear anomalies

The external, middle, and inner ear may be affected and common problems include hearing loss, fusing of the bones in the middle ear, chronic fluid build-up in the middle ear, narrow or missing ear canal, and abnormally shaped extarnal ears.

Section 2 - A List of Associated Anomalies

As well as these six originally identified features of CHARGE, there is a growing list of associated anomalies. These anomalies can get better or worse over time and the impact they may have can also vary. The complexity of the condition means that each anomaly can affect another one so that no two people with CHARGE can have the same prognosis. Treating one aspect of the condition without taking into account how this affects, and is affected by, other aspects of the condition may well reduce the efficacy of that treatment.

Abnormal Gait

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.
(See also: Hypotonia)

Chromosome Abnormalities

Although no particular chromosorne abnormality is associated with CHARGE, and the cause of CHARGE is unknown, a very small number of people with the CHARGE diagnosis also have an identified chromosome abnormality. There are also particular chromosome and gene abnormarilies associated with one or more features of CHARGE.

Cleft Lip/Palate

This is common and may make atresia of the choanae, if present, difficult to diagnose. Surgery may be required to repair severe clefts. Children with a cLeft palate may have problems with ear infections, feeding, and speech even after surgical corrections
(See also: Atresia of the Choanae and DiGeorge Sequence)

Corpus Callosum Agenesis

This is a rare neurological condition in which the corpus callosum - the bridge of white matter that joins the two halves of the brain - fails to form properly.
(See also: Temperature Dysregulation)

Cranial Nerve Anomalies

Cranial nerve problems are thought to be very common, in particular with the first cranial nerve (loss of sense of smell), the seventh cranial nerve (facial palsy), the eighth cranial nerve (sensor-neural hearing loss, and balance problems) and the ninth and tenth cranial nerves (swallowing problems).
(See also: Facial Palsy)

Delayed Puberty

This is very common in both boys and girls. Although most people with CHARGE receive hormone treatment, there are signs that some reach puberty spontaneously.
(See also: Pituitary Anomalies)

Dental Anomalies

Dental development may be delayed with late cutting of teeth, and teeth may be malformed and/or grow out of position and need surgery. There is also evidence that some children with CHARGE experience severe dental decay. Possible contributory factors to consider are high sugar content in medicines commonly taken by people with CHARGE and acids caused by gastro-oesphageal refux.
(See also: Gastro-Oesphageal Reflux)

DiGeorge Sequence

This is a congenital absence of the thymus and parathyroid glands. This anomaly leads to increased risk of infections. low blood calcium and delayed development. There are other features which overlap with CHARGE such as low set ears and cleft palate.

Epilepsy

Whilst rare, there is growing evidence of epilepsy with some people with CHARGE.

Facial Features

Facial asymmetry may be present even in the absence of facial palsy and other characteristic facial features include a square face with a broad prominent forehead, ptosis (droopy eyelids), a fat mid-face and small chin.

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.
(See also: Cranial Nerve Anomalies)

Gastro-Oesophageal Reflux

This is when the gastric contents of the stomach come back up into the food pipe (oesophagus). It can be painful and also cause damage to the oesophagus because of acidity. It is quite common and may cause failure to thrive due to poor nutritional intake. Medical or surgical management may be required.
(See also: Oesophageal Atresia and Dental Anomalies)

Hypocalcaemia

The inability of the body to absorb calcium from food and drink is believed to be a problem occasionally for some people with CHARGE, particularly if they show overlap with DiGeorge Sequence (which does have a chromosomal abnormality). There may be other problems with digestion and absorption of nutrition.

Hypoglycaemia

Episodes of low blood sugar are reported in children with CHARGE. Periods of irritability or of drowsiness with sweating and pallor may suggest the need for food or drink to increase blood sugar levels.

Hypotonia

Low muscle tone or very floppy muscles are very characteristic of children with CHARGE and sometimes the problems associated with this persist into adulthood. It is thought that multi-sensory impairments, balance problems, health problems persistent and repeated hospitalisation and surgery breathing difficulties, and sensory defensiveness all play a part in this.
(See also: Abnormal Gait)

Immune System Deficiency

This is seen in children who show an overlap with DiGeorge Sequence. They have an increased risk of infection.

Imperforate Anus

The anus is closed over at birth and needs to be opened surgically. Sometimes only a thin membrane needs to be opened. More often, the blind end of the large bowel needs to be connected to the skin on the belly as a colostomy. Later the end of the bowel is put down through an artificial opening created where the anus ought to be.

Inguinal Hernia

This is also known as a "rupture" and appears as a lump in the groin. It is actually a small loop of intestine sticking out of a small hole connecting the inside of the abdomen to the groin. This can result in obstructron or infection so preventive surgery is necessary.
(See also: Omphalocele and Umbilical Hernia)

Lack of Sense of Smell

This can result from dysfunction of the first cranial nerve, especially if choanal atresia is present. Although not an acute medical problem, this may affect feeding, and may close off one more sense channel to a child who is already missing out on a lot of other sensory information.
(See also: Cranial Nerve Anomalies)

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.
(See also: Swallowing Abnormalities)

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.

Mondini Defect

This is an abnormal opening from the semi-circular canal into the middle ear. It is a contributory cause of balance problems and can be surgically treated.

Nipple Anomalies

In rare cases extra nipples, or under-developed nipples, have been reported in people with CHARGE.

Oesophageal Atresia

The oesophagus or food pipe may not be connected to the stomach and may just have a blind ending. Or it can be abnormally narrow or floppy, leading to a range of feeding problems including reflux.
(See also: Gastro-oesophageal Reflux and Tracheo-Oesophageal Fistula)

Omphalocele

This is a protrusion of variable amounts of the intestines, stomach and the liver through the abdominal wall and requires immediate surgery.
(See also: Inguinal Hernia and Umbilical Hernia)

Otitis Media

Middle ear infections. These can occur when fluid accumulates in the middle ear behind the ear drum. If the fluid is infected the child will feel pain and there will be a temporary hearing loss. In CHARGE, otitis media often lasts into the teenage years and requires close supervision.

Pituitary Anomalies

The pituitary is a gland at the base of the brain which produces several important hormones that help control growth and thyroid production. The pituitary gland does not function properly in some children with CHARGE and this can result in deficiencies in growth hormone and in the sex hormones which induce puberty. If left untreated these children will be short in stature and will not develop secondary sex characteristics. Hormone therapy has been used for these problems.
(See also: Delayed Puberty)

Renal Anomalies

There may be problems with kidney development or function or even a missing kidney. Kidney reflux (i.e. reflux of urine from the bladder back into the ureter) is another feature which will not show upon ultrasound investigation and will need to be checked by having a Micturating Cystourethragram (MCUG) and then carefully monitored. If this kind of reflux occurs but is not detected for a considerable period of time (and there may be no obvious symptoms during this time) irreparable damage to one or both kidneys can occur.

Scoliosis

Progressive curvature of the spine mainly due to low muscle tone. Other contributory factors are balance problems, and visual impairment. These lead to poor use of the body and poor posture. This is reported to be very common in older children and adults with CHARGE and needs to be addressed as early as possible.

Semi-Circular Canal Anomalies

The semi-circular canals are the receptors of the balance sense, and balance problems due to damage in the inner ears are thought to be very common in people with CHARGE. Severe hypotonia, unusual movement patterns in infants, and characteristic gait in older people with CHARGE, may all indicate problems with the balance sense.
(See also: Cranial Nerve Anomalies)

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.

Skeletal Anomalies

A small number of people with CHARGE are born with skeletal problems such as hands and feet which are cleft and may need corrective surgery. They may also have a very low set thumb or an extra finger or toe.

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.
(See also: Larynx/Pharynx Problems and Cranial Nerve Anomalies)

Tear Ducts Missing or Narrow

The tear ducts may be unable to drain fluids from the eyes because of this problem, and very sticky eyes will result.

Temperature Dysregulation

There are several possible reasons why people with CHARGE may be unable to regulate their body temperature consistently and effectively. One possibility is that the hypothalamus (the part of the brain that controls body temperature) may not be functioning correctly.

Another possibility may be abnormalities of the Corpus Callosum which are associated with episodes of severe hypothermia.

Finally, there may be problems with the part of the nervous system (autonomic) which regulates the functions of some of the internal organs, leading to wide swings in heart rates, temperature, blood pressure, and pain tolerance.
(See also: Corpus Callosum Agenesis)

Tracheo-oesophageal Fistula

If a child is born with an opening between the trachea (windpipe) and the oesophagus (food pipe), emergency surgery is necessary, and the resulting scarring may cause continuing problems of reflux.
(See also: Oesophageal Atresia)

Umbilical Hernia

(See also: Inguinal Hernia and Omphalocele)

Webbed Neck

Webbed neck and sloping shoulders are sometimes seen in people with CHARGE.

Michael Adeye - parent of a teenager with CHARGE
Colin Anderson - Senior Communications Officer, Sense
Yvonne Arnold - parent of a teenager with CHARGE
David Brown - Head of The Family Centre, Sense
Rodney Clark - Chief Executive of Sense
Sheila Draper- parent of a teenager with CHARGE & Coordinator of the Family Support Group
Nick Draper - parent of a teenager with CHARGE & Chair of the CHARGE Family Support Group
Dr Barry Jones - Consultant Opthalmologist
Hazel & Gareth Jones - parents of a teenager with CHARGE
Dr Jeremy kirk - Consutant Paediatric Endocrinologist
Kim & Ian Kirkbride - parents of a child with CHARGE
David Levey - parent of a child with CHARGE & CHARGE Development Officer, Sense
Hannah Levey - parent of a chid with CHARGE
Taz Mahmood - parent of a child with CHARGE
Joff McGill - Family Networks and Branches Manager, Sense
Miss Isabelle Russell-Eggitt - Consultant Opthalmic Surgeon
Jackie Turner- parent of an adult with CHARGE



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