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CHARGE syndrome

CHARGE syndrome is a genetic syndrome with a known pattern of features: coloboma of the eye, heart defects, atresia of the choanae, restriction of growth and development, and ear abnormalities and deafness.

About

Related gene: CHD7

Inheritance pattern: autosomal dominant

CHARGE syndrome is a recognizable genetic syndrome with a known pattern of features. The prevalence of CHARGE syndrome is 1:10,000-1:15,000 live births. The letters in CHARGE stand for coloboma of the eye, heart defects, atresia of the choanae, restriction of growth and development, and ear abnormalities and deafness.

Find CHARGE syndrome clinical trials

See if you qualify to participate in clinical trials evaluating new treatments and/or diagnostics for CHARGE syndrome.

Organizations supporting those with CHARGE syndrome

CHARGE Syndrome Foundation

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The CHARGE Syndrome Foundation was founded in 1982 in Columbia, Missouri. Today, the organization offers a biennial international conference, support for clinical and scientific research, and support and resources for families. 

Learn more about combined immune deficiencies.

This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice. Additionally, links to other resources and websites are shared for informational purposes only and should not be considered an endorsement by the Immune Deficiency Foundation.