What is CHARGE?

CHARGE syndrome is an acronym for a genetic disorder that typically causes the following abnormalities: coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities and ear abnormalities. The disease is present at birth, and symptoms can persist and worsen as a person ages.

What causes CHARGE syndrome? 

A genetic mutation is the cause of CHARGE syndrome. In most cases, the mutation occurs spontaneously and is not passed down from parents to children.

What are the symptoms of CHARGE syndrome? 

A wide variety of symptoms can be present with CHARGE syndrome. Coloboma refers to a hole or gap in the eye structure. Choanal atresia or choanal stenosis means the nasal passages are blocked. Heart defects, development problems, genital malformations and ear abnormalities are just a few of many other symptoms that can be present.

What are CHARGE syndrome care options?

There is no cure for CHARGE syndrome. The individual symptoms can be treated as they occur in order to give individuals with the disease the best quality of life possible. The Craniofacial team at Nicklaus Children’s Hospital has a large experience in treating patients with Charge Syndrome.  Care is individualized for each child to maximize aesthetic and functional outcomes. 

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

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