My Baby Was Diagnosed with CHARGE Syndrome
The short answer
CHARGE syndrome is a complex genetic condition caused by mutations in the CHD7 gene, occurring in about 1 in 8,500-10,000 births. The name stands for Coloboma (eye defect), Heart defects, Atresia choanae (blocked nasal passages), Retardation of growth/development, Genital underdevelopment, and Ear anomalies/deafness. CHARGE affects many body systems and presents differently in each child. While the medical needs can be significant, especially in the early years, many people with CHARGE syndrome live fulfilling lives with appropriate support. Advances in medical care continue to improve outcomes.
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By Age
What to expect by age
0-6 months
The newborn period often involves intensive medical care. Priorities include ensuring a safe airway (choanal atresia may require surgery), cardiac evaluation and management, and establishing feeding (many babies with CHARGE need feeding tubes due to swallowing difficulties from cranial nerve dysfunction). Eye exams assess for coloboma. Hearing testing is essential — hearing loss ranges from mild to profound. Genetic testing for CHD7 mutations confirms the diagnosis.
6-12 months
As immediate medical issues are stabilized, developmental support becomes central. Children with CHARGE often have combined hearing and vision loss (deafblindness) which significantly impacts how they learn and interact. Early intervention should include a deafblind specialist if available. Feeding remains a major focus — many children transition from tube feeding gradually. Balance problems (from vestibular dysfunction) affect motor development.
1-3 years
Development may be slower than typical, but children with CHARGE continue to make progress with consistent support. Communication approaches vary — some children use sign language, some use spoken language with hearing aids or cochlear implants, and some use a combination. Motor milestones are often delayed due to balance issues. Growth may be below average, and growth hormone deficiency should be screened for.
3 years+
With appropriate educational support (often including deafblind services), many children with CHARGE syndrome make meaningful academic and social progress. Behavioral challenges can occur, sometimes related to frustration from communication difficulties. The CHARGE Syndrome Foundation provides excellent resources and a supportive community. Ongoing medical monitoring of heart, hearing, vision, growth, and kidney function continues through childhood.
What Should You Do?
When to take action
- Your baby with CHARGE syndrome has a medical team in place and acute issues are being managed
- Your child is making developmental progress with early intervention support
- Your child is communicating in their own way and engaging with their environment
- Your baby is having worsening difficulty with feeding, breathing, or swallowing
- You are concerned about your child's hearing or vision — early intervention makes a significant difference
- Your child seems to have balance or coordination problems beyond what your team expected
- You need help coordinating the multiple specialists involved in your child's care
- Your baby is having severe breathing difficulty — call 911 immediately
- Your baby shows signs of heart failure (difficulty breathing, rapid breathing, poor feeding, excessive sweating) — seek emergency cardiac evaluation
- Your baby has a seizure — call 911
Sources
Related Resources
Trust your instincts. If something feels wrong, reach out to your pediatrician.
Worrying about your baby means you care. That is a good thing.
Related Medical Concerns
My Baby Was Born with Blocked Nasal Passages (Choanal Atresia)
Choanal atresia is a condition present at birth where one or both nasal passages are blocked by bone or tissue. Since newborns are obligate nose-breathers (they breathe primarily through their nose), bilateral choanal atresia (both sides blocked) is a medical emergency that is usually detected immediately after birth. Unilateral choanal atresia (one side blocked) may not be diagnosed until later. Treatment is surgical, and outcomes are generally very good. About half of babies with choanal atresia have other associated conditions, so a thorough evaluation is important.
My Baby Was Diagnosed with 22q11.2 Deletion Syndrome (DiGeorge)
22q11.2 deletion syndrome (also known as DiGeorge syndrome or velocardiofacial syndrome) is caused by a small missing piece of chromosome 22 and is the most common microdeletion syndrome, affecting about 1 in 4,000 births. It can affect many body systems — heart, immune system, palate, calcium regulation, learning, and behavior. The severity varies widely, even within the same family. Some children have significant medical needs, while others have mild features. With appropriate monitoring and support, many people with 22q11.2 deletion syndrome lead fulfilling, independent lives.
My Baby Has Congenital CMV (Cytomegalovirus)
Congenital cytomegalovirus (CMV) infection occurs when CMV is passed from mother to baby during pregnancy. It is the most common congenital infection, affecting about 1 in 200 babies. Most babies with congenital CMV (about 90%) have no symptoms at birth and do well. However, about 10% are symptomatic at birth and may have hearing loss, vision problems, developmental delays, or other complications. CMV is also the leading non-genetic cause of hearing loss in children. Early identification and antiviral treatment can improve outcomes for symptomatic babies.
My Baby's Head Shape Looks Abnormal
Many babies develop temporary head shape irregularities that are completely normal. A cone-shaped head from vaginal delivery reshapes within days. Mild positional flattening (plagiocephaly) from sleeping on the back is very common and usually improves with repositioning and tummy time. However, head shape changes involving ridges, a persistently bulging fontanelle, or rapid head growth changes should be evaluated to rule out craniosynostosis.
Achondroplasia (Dwarfism) in Babies
Achondroplasia is the most common form of short-limbed dwarfism, affecting about 1 in 15,000 to 40,000 births. It is caused by a mutation in the FGFR3 gene and is usually apparent at birth with characteristic features including short limbs, a larger head, and a prominent forehead. Intelligence is normal. With monitoring for specific complications and supportive care, children with achondroplasia lead full, active, and independent lives.
Adenoid Hypertrophy and Breathing
Adenoids are lymphoid tissue located behind the nose that help fight infection in young children. When adenoids become enlarged (adenoid hypertrophy), they can block the nasal airway, causing chronic mouth breathing, snoring, nasal speech, and sleep-disordered breathing. Enlarged adenoids are most common between ages 2-7 and are a leading cause of obstructive sleep apnea in young children. Treatment ranges from watchful waiting and nasal steroids to surgical removal (adenoidectomy) if breathing or sleep is significantly affected.