CHARGE syndrome
A genetic syndrome named for its main features: coloboma, heart defects, choanal atresia, growth delay, genital and ear anomalies.
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.
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. 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 or 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
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 CT shows absent or small 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.
Educational information, not medical advice. For any symptom, see a health professional.
Sources: CHARGE syndrome: MedlinePlus Genetics (MedlinePlus, US National Library of Medicine, 2026); CHD7 gene: MedlinePlus Genetics (MedlinePlus, US National Library of Medicine, 2026).
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