ConditionChildren's health
CHARGE Syndrome
CHARGE syndrome is a rare genetic condition present from birth that affects many body systems. The name lists classic features: Coloboma of the eye, Heart defects, Atresia of the choanae (blocked nasal passages), Retarded (restricted) growth and development, Genital abnormalities and Ear abnormalities with hearing loss. Most cases are caused by a new change in the CHD7 gene. Care is lifelong and involves many specialists, and many children do much better than early predictions suggest.
Also called: CHARGE association, Hall-Hittner syndrome, CHD7-related disorder
At a glance
- What it is
- A genetic multi-system condition present at birth.
- Cause
- A variant in the CHD7 gene in most cases, usually new (not inherited).
- How common
- About 1 in 10,000 to 15,000 births.
- Key features
- Eye coloboma, heart defects, blocked nasal passages, growth and developmental delay, genital differences, ear anomalies and hearing loss, absent sense of smell, balance problems.
- Care
- Surgery and support from a coordinated team; early hearing, vision and feeding interventions.
When to get help
Call 911 or go to the ER
- A newborn who turns blue or struggles to breathe when calm, and pinks up when crying (possible blocked nasal passages)
- Breathing pauses, choking or turning blue during feeds
- Signs of heart failure: fast breathing, sweating with feeds, poor color
- Collapse, low blood sugar or severe illness during surgery or infection in a child with known low cortisol
See a doctor within a day or two
- Repeated chest infections or coughing during feeds (possible aspiration)
- Poor weight gain or dehydration
Book a routine appointment
- Delayed sitting or walking, poor balance, or hearing and vision concerns in a child with CHARGE
- No signs of puberty by age 13 to 14 in girls or 14 in boys
What causes CHARGE syndrome
About two-thirds or more of people with CHARGE have a pathogenic variant in the CHD7 gene, which controls how many other genes are switched on during early development of the head, heart, ears and nervous system. Most variants arise new (de novo) in the child and are not present in either parent. A parent with a CHD7 variant has a 50% chance of passing it on. Rarely, other genes or chromosome changes cause a similar picture.
Features
Children have different combinations and severities of features.
| Feature | What it means |
|---|---|
| Coloboma | A gap in the iris, retina or optic nerve; can reduce vision |
| Heart defects | Many types, such as tetralogy of Fallot, septal defects or aortic arch anomalies. See congenital heart defect |
| Choanal atresia or stenosis | Blocked or narrow back of the nose; babies breathe through the nose, so this can be life-threatening |
| Growth and development | Short stature, sometimes growth hormone deficiency; motor delay due to balance and vision problems |
| Genital differences | Small penis, undescended testes; delayed or absent puberty from hypogonadism |
| Ears | Distinctive cup-shaped outer ears, absent or malformed balance canals, and hearing loss |
Other common features:
- cranial nerve problems: absent sense of smell, facial weakness, swallowing difficulty
- feeding difficulties and reflux, often needing a feeding tube
- cleft lip and palate
- kidney anomalies
- tracheoesophageal fistula
- low immune function in some, overlapping with 22q11 deletion syndrome
- behavior differences: sensory and anxiety-related behaviors, obsessive-compulsive features and ADHD-like traits
Intelligence ranges widely, from typical to significant intellectual disability. Combined hearing and vision loss can make development look slower than a child's actual cognitive potential.
Diagnosis
Diagnosis is based on clinical criteria (such as the Blake or Verloes criteria) and confirmed by genetic testing for CHD7. It may be suspected before birth if ultrasound shows a heart defect and other anomalies.
After diagnosis, a baby usually has:
- echocardiogram
- nasal endoscopy or CT for choanal atresia
- eye examination
- newborn hearing tests and CT of the inner ear
- kidney ultrasound
- swallowing assessment
- hormone tests, including growth and puberty hormones as the child grows
Treatment and care
There is no cure; care targets each feature and supports development.
- Breathing: surgery to open blocked nasal passages; sometimes a tracheostomy.
- Heart: surgery for structural defects.
- Feeding: speech and feeding therapy, reflux treatment, and a gastrostomy tube when needed.
- Hearing: hearing aids, bone-conduction devices or cochlear implants, plus sign language and communication support.
- Vision: glasses, low-vision services, and protecting vision in coloboma.
- Balance and motor: physical and occupational therapy.
- Hormones: growth hormone if deficient, and hormone treatment to start puberty.
- Education: early intervention, then special education services including deafblind expertise.
- Anesthesia: children with CHARGE have higher anesthesia and airway risks, so procedures should be combined when possible and planned by experienced teams.
A care coordinator or a CHARGE syndrome clinic helps families manage multiple appointments.
Outlook
The first year can be challenging, with breathing, heart and feeding problems. Survival has improved greatly with modern surgery and neonatal care. Many children with CHARGE go to school, communicate effectively, and grow into adults who work and live with varying degrees of independence. Lifelong follow-up covers hearing, vision, hormones, mental health and other problems.
Frequently asked questions
What does CHARGE stand for?
CHARGE stands for coloboma of the eye, heart defects, atresia of the choanae, restricted growth and development, genital abnormalities and ear abnormalities. Not everyone has all six, and other features such as absent sense of smell, balance problems and swallowing difficulties are also common.
What causes CHARGE syndrome?
Most cases are caused by a variant in the CHD7 gene, which helps control early development. The variant usually occurs new in the child and is not inherited from either parent. Parents of one affected child usually have a low chance of having another.
What is the life expectancy for CHARGE syndrome?
The highest risk is in infancy, from airway, heart and feeding problems. With modern care, most children survive infancy, and many live into adulthood. Life expectancy depends on the severity of heart defects, breathing and swallowing problems.
Can children with CHARGE syndrome talk and walk?
Many do, although often later than other children. Balance problems from inner ear differences delay walking, and hearing and vision loss affect speech. With early intervention, hearing support and communication methods such as sign language, many children communicate well.
Sources
This guide was written from current patient and clinical guidance, including:
- MedlinePlus Genetics: CHARGE syndrome
- National Organization for Rare Disorders: CHARGE Syndrome
- CHARGE Syndrome Foundation: Professional resources
- GeneReviews (NCBI): CHD7 Disorder
- Blake KD et al., CHARGE syndrome clinical guidelines and checklists, American Journal of Medical Genetics