CHARGE syndrome was initially described in 1979, the diagnostic acronym CHARGE was coined in 1982. The condition was previously known as CHARGE association but was renamed CHARGE syndrome on the identification of the gene mutation now known to be involved.

About half of the individuals diagnosed with CHARGE syndrome have been found to have mutations of the CHD7 gene on Chromosome 8. As others with the syndrome have not shown this mutation, it is thought that other genes may be involved.

The acronym CHARGE was coined to reflect the following features:

C oloboma
H eart defects
A tresia choanae (blockage of the nasal passages)
R estricted growth and development
G enital hypoplasia
E ar anomalies

Diagnosis has been historically based on fulfilling at least four out of the six diagnostic criteria in the acronym, although other features have also been variably noted.

Some of these abnormalities are more specific to CHARGE and this is now reflected in major and minor diagnostic criteria:

Major: Coloboma, Choanal Atresia, characteristic Ear Anomalies and Cranial Nerve Dysfunction.

Minor: Include the remainder of the original features plus orofacial clefting, tracheo-oesophageal fistulae and a distinctive face.

Individuals with all four major or three major and three minor undoubtedly have CHARGE, which is now considered by many to represent a discrete syndrome.

Inheritance patterns
The prevalence is estimated to be 1 in 10,000 births. Although most cases are sporadic, familial cases have been described, with a recurrence rate estimated at two to three per cent.

Prenatal diagnosis
Ultrasound scanning may detect some of the anomalies (including the ear) and genetic advice may be sought. As no consistent chromosomal abnormalities have been demonstrated, amniocentesis is not of benefit.

Medical text written December 2000 by Dr J Kirk. Last updated August 2005 by Dr J Kirk, Consultant Endocrinologist, Birmingham Children's Hospital, Birmingham, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

CHARGE FAMILY SUPPORT GROUP

CHARGE Family Support Group
Burnside
50 Commercial Street
Slaithwaite
Huddersfield HD7 5JZ
Tel: 01484 844202
e-mail: cajthomas@btinternet.com
Web: http://www.widerworld.co.uk/charge

The Group is a National Registered Charity No. 1042953, established in 1987. It offers support and advice to families of affected children and linking where possible. Activities include annual Family Fun Days. It publishes a quarterly newsletter and has a wide range of information available, details on request. The Group has over 160 members.

Group details last confirmed January 2007.