CHARGE Syndrome/Association

CHARGE Syndrome/Association

Craniofacial Conditions > CHARGE Association/Syndrome

CHARGE Association is a rare disorder that results from several defects during early fetal development and affects several organ systems of the body.

What is CHARGE Association?

CHARGE is an acronym that stands for:

  • Coloboma of the eye
  • Heart defects
  • Atresia of the Choanae
  • Retardation of growth and development
  • Genital and Urinary anomalies
  • Ear anomalies.

Four of these characteristic findings must be present to confirm the diagnosis of CHARGE Association.

Other characteristics of CHARGE Disorder/Association

In addition to these classic findings associated with CHARGE Association, some affected infants may also have other abnormalities including characteristic facial features, paralysis of certain facial nerves (facial palsy), incomplete closure of the roof of the mouth (cleft palate), a vertical groove in the upper lip (cleft lip), an abnormal connection between the windpipe and the tube that carries food from the mouth to the stomach (tracheoesophageal fistula), and/or kidney (renal) malformations

The physical findings and symptoms of individuals with CHARGE Association may vary greatly from case to case.

Causes of CHARGE

The exact cause of CHARGE Association is not known; most cases are thought to occur randomly, for no apparent reason (sporadic). (NORD’s Rare Disease Database, 2000)

For nearly 70 years, myFace has worked with patients and families to provide comprehensive care and support. In addition to providing access to state-of-the-art medical care, myFace provides other important services such as emotional support groups, workshops and educational webinars that offer guidance, counsel and resources for patients, families and the greater craniofacial community across the country.

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