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CHARGE Research

Clinical Database Project



Young girl with CHARGE syndrome playing with letters

CHARGE syndrome is a recognizable (genetic) pattern of birth defects which occurs in about one in every 9-10,000 births worldwide. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. The vast majority of the time, there is no history of CHARGE syndrome or any other similar conditions in the family. Babies with CHARGE syndrome are often born with life-threatening birth defects, including complex heart defects and breathing problems. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing loss, vision loss, and balance problems which delay their development and communication. All are likely to require medical and educational intervention for many years. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations.

Continued research is needed to help us understand the medical and developmental challenges facing individuals with CHARGE. Better understanding will lead the way to interventions, therapies and educational strategies which can help people with CHARGE syndrome overcome many of the obstacles in their lives.

One of the hidden features of CHARGE syndrome is the determination and strong character these children display.

History of the name "CHARGE"

The name "CHARGE" was a clever way (in 1981) to refer to a newly recognized cluster of features seen in a number of children. Over the years, it has become clear that CHARGE is indeed a syndrome and at least one gene causing CHARGE syndrome has been discovered (see below). The letters in CHARGE stand for: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness. Those features are no longer used in making a diagnosis of CHARGE syndrome, but we're not changing the name.

Clinical Diagnostic Criteria (2005)

Even though a gene for CHARGE syndrome has been discovered, the gene test is very expensive and isn't perfect -only about 2/3 of people with CHARGE have a positive gene test. Therefore, the diagnosis of CHARGE syndrome is still clinical - based on the medical features seen in the child. An evaluation for possible CHARGE syndrome should be made by a medical geneticist who is familiar with CHARGE. The clinical diagnosis is made using a combination of Major and Minor features. Major features are characteristics that are quite common in CHARGE syndrome but relatively rare in other conditions, and are, for the most part, diagnosable in the newborn period. Minor features are characteristics which are also common in CHARGE, but not quite as helpful in distinguishing CHARGE from other syndromes. They either are common in other conditions (e.g. heart defects), harder to diagnose consistently (e.g. typical CHARGE face), or may not be diagnosed until later (e.g. growth deficiency). Finally, there are "Other" features - these may be very important in terms of health and management, but are not very helpful in determining if a child has CHARGE syndrome or something else.

Major Features of CHARGE Syndrome (very common in CHARGE and relatively rare in other conditions)

Coloboma of the eye Coloboma (sort of like a cleft) of the iris, retina, choroid, macula or disc (not the eyelid); microphthalmos (small eye) or anophthalmos (missing eye): CAUSES VISION LOSS


Choanal atresia or stenosis

The choanae are the passages that go from the back of the nose to the throat. They can be narrow (stenosis) or blocked (atresia). It can be unilateral (one-sided) or bilateral (both sides), bony or membranous.

Unilateral atresia or stenosis can be difficult to diagnose

Cranial nerve abnormality I - Missing or decreased sense of smell


IX/X - Swallowing difficulties, aspiration  - Pictures 70%-90%
VII - Facial palsy (one side or both)  -  Pictures 40%
CHARGE outer ear Short, wide ear with little or no lobe, "snipped off" helix (outer fold), prominent antihelix (inner fold) which is discontinuous with tragus, triangular concha, decreased cartilage (floppy), often stick out, usually asymmetric -  Pictures >50%
CHARGE middle ear Malformed bones of the middle ear (ossicles): CAUSES CONDUCTIVE HEARING LOSS Common
CHARGE inner ear Malformed cochlea (Mondini defect); small or absent semicircular canals: CAUSE HEARING LOSS AND BALANCE PROBLEMS  -  Pictures

Minor Characteristics of CHARGE: Significant, but more difficult to diagnose or less specific to CHARGE

Heart defects Can be any type, but many are complex, such as tetralogy of Fallot 75%
Cleft lip +/- cleft palate Cleft lip with or without cleft palate, cleft palate, submucous cleft palate  -  Pictures 20%
TE fistula Esophageal atresia, Trancheo-esophageal fistula (TEF), H-shaped TEF 15-20%
Kidney abnormalities Small kidney, missing kidney, misplaced kidney, reflux 40%
Genital abnormalities Males: small penis, undescended testes
Females: small labia, small or missing uterus

Both: lack of puberty without hormone intervention

Growth deficiency Growth hormone deficiency 15%
Other short stature 70%
Typical CHARGE Face Square face with broad prominent forehead, arched eyebrows, large eyes, occasional ptosis (droopy lids), prominent nasal bridge with square root, thick nostrils, prominent nasal columella (between the nostrils), flat midface, small mouth, occasional small chin, larger chin with age. Facial asymmetry even without facial palsy  -  Pictures
Palm crease Hockey-stick palmar crease  -  Pictures 50%
CHARGE Behavior Perseverative behavior in younger individuals, obsessive compulsive behavior (OCD) in older individuals >50%

Other Features of CHARGE: consistent with CHARGE, possibly medically significant, but less helpful in making a diagnosis

Chronic ear problems Lots of infections, fluid in the ears, PE tubes until teens 85%
Sloping shoulders Underdeveloped shoulder muscles, small or missing pectoral muscles, short neck  -  Pictures Common
Limb/skeletal Absent thumb, extra fingers, vertebral abnormalities ?
CNS abnormalities Hydrocephalus, seizures, abnormalities seen on MRI or CT Occasional
Thymus or parathyroid abnormality Small or missing thymus, decreased immune system Rare
Omphalocele Omphalocele or umbilical hernia 15%
Nipple anomalies Extra, missing or misplaced nipples Occasional
Hypotonia Low muscle tone  -  Pictures 90%
Scoliosis Usually due to low muscle tone Common

No one feature is required to make a diagnosis of CHARGE. Every feature varies from severe to absent in different children.

What else can look like CHARGE (differential diagnosis)?

What causes CHARGE syndrome?

CHARGE syndrome is a genetic condition, caused by a change (mutation) in a single gene, most often CHD7. In August, 2004, the first major gene for CHARGE syndrome was reported by a group of researchers in the Netherlands. The gene is CHD7, located on the long arm of chromosome #8. It is a regulatory gene which plays a role in turning other genes on and off. Changes (mutations) in this gene have been found in more than half of all children with CHARGE tested to date. In the vast majority, the mutation was new in the child - not detected in the parents. This confirms that CHARGE syndrome is a genetic condition caused by a new mutation in a dominant gene. Further research is needed to find other genes that can cause CHARGE and to determine the function of the CHARGE genes in the developing fetus, babies, children and adults.

We will shortly have articles online for a more complete explanation.

Can you have another child with CHARGE syndrome?

It is possible, but not likely. The empiric risk of reoccurrence is at most 1-2%. That means if you have one child with CHARGE, there is a maximum 1-2% chance of the next child also having CHARGE. Prenatal diagnosis may be available if a CHD7 mutation can be found in your affected child. Risk to children of individuals with CHARGE is probably 50%.  Learn more about reoccurrence.

CHARGE Syndrome Medical Management Issues

Medical References:

Vissers ELM, van Ravenswaaij CMA, Admiraal R, Hurst JA, deVries BBA, Janssen IM, van der Vliet WA, Huys EHLPG, de Jong PJ, Hamel BCJ, Shoenmakers EFPM, Brunner HG, Veltman JA, van Kessel AG:. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nature Genetics Online 8 August, 2004.

Blake KD, Davenport SLH, Hall B, Hefner MA, Pagon RA, Williams MS, Lin A, Graham JM: CHARGE Association - An update and review for the primary pediatrician. Clinical Pediatrics 37(3):159-73, 1998.

Pagon PA, Graham JM, Zonana J, Young SL: Congenital heart disease and choanal atresia with multiple anomalies. Journal of Pediatr.99:223-227. 1981.


For more information about CHARGE Syndrome including links to print & audio sources, news articles, and other sites devoted to CHARGE syndrome, visit our Resources page.