CHARGE syndrome


CHARGE association was initially described in 1979, with the acronym CHARGE first used in 1982. With identification of the gene responsible for CHARGE in 2004, it was renamed CHARGE syndrome.


Medical text last updated October 2018 by Professor J Kirk, Consultant Endocrinologist, Birmingham Children’s Hospital, Birmingham, UK.

Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information is provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.

What are the symptoms?

The acronym CHARGE is used to reflect the following features of the condition:

  • Coloboma
  • Heart defects
  • Atresia choanae (blockage of the nasal passages)
  • Retardation of growth and development
  • Genital underdevelopment
  • Ear anomalies.

What are the causes?

Over two-thirds of individuals diagnosed with CHARGE syndrome have mutations of the CHD7 gene on chromosome 8, although this percentage increases to nearly 100 per cent in those with many of the characteristic diagnostic criteria (see How is it diagnosed?). No other genes have been clearly implicated to date.

How is it diagnosed?

Diagnosis was historically based on having at least four out of the six diagnostic features in the CHARGE acronym, although this is no longer used. Some abnormalities are more specific to CHARGE and so are called major diagnostic criteria (the four Cs): these include coloboma, choanal atresia, characteristic ear anomalies and cranial nerve dysfunction (the nerves that emerge directly from the brain). Minor features include the rest of the features of the acronym plus orofacial clefting (where the mouth or roof of mouth do not form properly), tracheo-oesophageal fistulae (see entry Tracheo-oesophageal Fistula and/or Oesophageal Atresia) and a distinctive face.

Individuals with all four major or three major and three minor features are diagnosed as having CHARGE syndrome. Testing someone’s DNA to look for the mutation(s) known to cause CHARGE can confirm the diagnosis.

How is it treated?

Management depends on the various CHARGE features present (for example heart, vision and hearing, clefting, feeding problems), although children often end up seeing multiple different specialists. A multidisciplinary team approach is best to optimise long-term care, and dedicated paediatric clinics are currently established in both Birmingham and Manchester, and an adult clinic in Birmingham.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
It is thought that 1 in 10,000 babies born have CHARGE syndrome. In nearly all children the mutation that causes the syndrome occurs sporadically (by chance), although rarely in some families, the condition is passed from one generation to another.

Prenatal diagnosis
Ultrasound scanning may detect some of the abnormalities (including those that affect the ear) and advice from a geneticist is recommended if CHARGE syndrome is suspected during pregnancy. As no consistent chromosomal abnormalities have been demonstrated, amniocentesis and chromosome analysis are not of benefit.

Is there support?

CHARGE Family Support Group

Tel: 020 8265 3604

The Group is a Registered Charity in England and Wales No. 1042953. It provides information and support to individuals, parents, families and professionals affected by CHARGE Syndrome. The Group offers family events in different parts of the country, publishes a regular newsletter and can put families in touch with each other, 

Group details last updated October 2016.

Back to A-Z Conditions