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Condition report · Other

CHARGE Syndrome

A multi-system condition, usually caused by a new variant in CHD7, that affects the eyes, heart, nasal passages, growth, genitals and ears.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

CHARGE syndrome

Autosomal dominant · About 1 in 10,000 births.

A condition caused by variants in CHD7 that typically includes coloboma of the eye, heart defects, choanal atresia, growth and developmental delay, genital differences and ear anomalies with hearing loss.

What a diagnosis changes

Diagnosis guides hearing, heart, growth and puberty (hormone) assessment.

Genes analysed

Also known as

CHARGE association; coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies; coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association; coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association; coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; Hall-Hittner syndrome

Includes 1 related subtype ↓
  • CHD7-related CHARGE syndrome
MONDO:0008965Orphanet 138MedGen 75567

Limitations

  • A minority of cases are caused by deletions within CHD7, which require copy-number analysis and may be missed.

Other other conditions

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