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# CHARGE syndrome

A genetic syndrome named for its main features: coloboma, heart defects, choanal atresia, growth delay, genital and ear anomalies.

Updated Nov 13, 2026

On this page

- The basics What it is
- Who gets it
- Causes
- Pathophysiology
- Classification

- Clinical Symptoms and signs
- Red flags
- Diagnosis
- Complications
- Prognosis

- Treatment Treatment

- Study Test yourself

## What it is

A multisystem developmental disorder, usually caused by a heterozygous variant in CHD7, a gene that remodels chromatin and controls the activity of many developmental genes.

See it in 3D

- [Retina](https://durgical.com/en/anatomy/retina/)
- [Nasal cavity](https://durgical.com/en/anatomy/nasal-cavity/)
- [Cochlea](https://durgical.com/en/anatomy/cochlea/)
- [Semicircular canals](https://durgical.com/en/anatomy/semicircular-canals/)

## +2

- [Auricle](https://durgical.com/en/anatomy/auricle/)
- [Iris](https://durgical.com/en/anatomy/iris/)

## Who gets it

About 1 in 10 000 births.

## Causes

- Heterozygous pathogenic variant in CHD7 in most cases
- Usually de novo; autosomal dominant when inherited

## Pathophysiology

CHD7 opens and closes chromatin at genes active in the developing eye, inner ear, heart, choanae, cranial nerves and [hypothalamus](https://durgical.com/en/anatomy/hypothalamus/). Losing one working copy disturbs these tissues at the same time, which explains the typical combination of malformations.

## Classification

- The acronym CHARGE: Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital anomalies, Ear anomalies and deafness

## Symptoms and signs

- Coloboma of the [iris](https://durgical.com/en/anatomy/iris/) or [retina](https://durgical.com/en/anatomy/retina/)
- Congenital heart defects
- Choanal atresia with breathing difficulty at birth
- Growth and developmental delay
- Small genitalia and delayed puberty
- Unusual outer ears, hearing loss and absent or small semicircular canals (poor balance)
- Cranial-nerve problems: swallowing difficulty, facial palsy, poor sense of smell

## Red flags

- Breathing difficulty or cyanosis in a newborn that improves with crying (choanal atresia)
- Choking or aspiration with feeds

## Diagnosis

**Clinical**
Clinical criteria based on major features (coloboma, choanal atresia, semicircular canal anomalies, cranial-nerve dysfunction) and minor features.

**Tests**
CHD7 sequencing and deletion analysis; hearing tests and heart evaluation (echocardiography).

**Imaging**
[Temporal bone](https://durgical.com/en/anatomy/temporal-bone/) CT shows absent or small [semicircular canals](https://durgical.com/en/anatomy/semicircular-canals/), a very characteristic finding.

## Treatment

**Surgical**
Repair of choanal atresia and of heart defects.

**Rehabilitation**
Hearing aids or cochlear implants, vision support and early developmental therapy.

**Medical**
Hormone treatment for delayed puberty from hypogonadotropic hypogonadism.

**Follow-up**
Coordinated multidisciplinary follow-up, including feeding and airway safety during anaesthesia.

## Complications

- Aspiration and feeding difficulties
- Combined vision and hearing loss
- Complications of heart surgery and anaesthesia

## Prognosis

Highly variable; survival depends on the heart and airway problems, and many children achieve far more than first expected with support.

## Test yourself

Think of the answer, then tap the question to see it.

## What does the acronym CHARGE stand for?

Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital anomalies, Ear anomalies and deafness.

## Which imaging finding is very characteristic of CHARGE syndrome?

Absent or small semicircular canals on temporal bone CT.

## What does CHD7 do?

It remodels chromatin, regulating many genes during development of the eye, ear, heart and other organs.

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Educational information, not medical advice. For any symptom, see a health professional.

Sources: [CHARGE syndrome: MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/charge-syndrome/) (MedlinePlus, US National Library of Medicine, 2026); [CHD7 gene: MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/chd7/) (MedlinePlus, US National Library of Medicine, 2026).

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Representative model, for educational purposes only.

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Source: https://durgical.com/en/conditions/charge-syndrome/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/charge-syndrome/