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CHD7 disorder is the molecularly defined spectrum associated with a pathogenic variant or deletion affecting CHD7. It includes people with classic CHARGE syndrome and people with only some CHARGE-related features. A CHD7 result is not automatically equivalent to a clinical diagnosis of CHARGE syndrome, and a person with a clinical CHARGE pattern may need broader genetic evaluation when CHD7 testing is nondiagnostic. The CHD7 Disorder GeneReview was revised in 2025 and provides current evaluation and management guidance.
Urgent and procedure-related safety
In a newborn, blocked or narrowed nasal passages, tracheoesophageal anomalies, cranial-nerve dysfunction, and congenital heart disease can cause an airway, breathing, or feeding emergency. At any age, seek urgent assessment for respiratory distress, color change, apnea, repeated choking, inability to manage secretions, sudden reduced responsiveness, a first or prolonged seizure, severe dehydration, or acute abdominal pain and distension.
Aspiration can occur without a strong cough. A new wet voice, unexplained fever, chest symptoms, declining intake, or recurrent respiratory illness warrants prompt swallowing and medical review. Abrupt behavior or participation change may reflect pain, sensory-access failure, infection, constipation, reflux, sleep disruption, or communication breakdown.
Post-anesthesia airway complications are an established concern in CHD7 disorder. Planned procedures should involve an experienced airway and anesthesia team, with the person's heart, airway, sleep, aspiration, cranial-nerve, medication, and communication history available. Clinicians may combine necessary procedures under one anesthetic when that is medically appropriate.
Quick reference
| Topic | Condition-specific guidance |
|---|---|
| Current framing | CHD7 disorder is the molecular spectrum; CHARGE syndrome is a recognizable clinical phenotype within it |
| CHARGE mnemonic | Coloboma, heart defect, choanal atresia, growth and development differences, genital hypoplasia, and ear anomalies |
| Beyond the mnemonic | Cranial-nerve, vestibular, palate, airway, esophageal, endocrine, renal, neurologic, sleep, and skeletal findings may matter |
| Sensory access | Hearing, vision, balance, touch, and proprioception should be considered together |
| Communication | May use spoken, signed, tactile, object, symbol, text, or technology-supported forms in combination |
| AAC | Feature-matched to the person's sensory profile, language, movement, cognition, environments, and preferences |
Recognition and diagnosis
CHARGE syndrome is recognized from a pattern of major and supporting clinical findings rather than from the acronym alone. Coloboma can affect vision differently depending on location; hearing loss may be conductive, sensorineural, or mixed; and semicircular-canal or cranial-nerve differences may affect balance, facial movement, smell, swallowing, and communication. Not every person has every acronym feature.
Molecular CHD7 disorder is established by identifying a pathogenic variant or deletion involving CHD7 in a person with compatible findings. Testing may include sequencing and deletion or duplication analysis, or broader genomic testing when the presentation overlaps another condition. Genetics review should interpret the result, consider parental testing and mosaicism, and provide individualized recurrence counseling.
Coordinated care
Early care may require airway, cardiology, otolaryngology, feeding, and surgical coordination. Across the lifespan, relevant review may include hearing, vision, vestibular and mobility function, sleep and breathing, growth and nutrition, palate and dental health, endocrine and pubertal development, renal and genital findings, seizures, spine and bone health, mental health, and participation.
Hearing, vision, vestibular function, illness, repeated hospitalization, and limited access to communication can all affect development and testing. Cognitive ability should not be inferred from delayed speech, balance, motor output, or sensory impairment. Deafblind and orientation-and-mobility expertise should be included when combined hearing and vision differences affect access.
Communication and sensory access
Communication assessment should integrate aided hearing, usable visual fields, light sensitivity, vestibular and postural needs, touch, motor access, fatigue, language, literacy, and partner familiarity. A person may need different communication forms at close range, at a distance, in low light, during illness, or with unfamiliar partners.
Speech can be affected by hearing, palate or cranial-nerve differences, respiration, facial movement, motor planning, and swallowing. Signed languages, tactile signing, object cues, gestures, pictures, print, speech, and technology can each be valid language or communication routes. Hearing technology or a spoken-language approach should not displace accessible sign or tactile communication when those are effective and preferred.
Feeding and swallowing
Dysphagia may reflect cranial-nerve differences, airway or esophageal anatomy, reflux, reduced sensation, poor coordination of breathing and swallowing, fatigue, or posture. Concerning signs include coughing or choking, wet or changed voice, congestion during meals, recurrent chest illness, prolonged feeding, food remaining in the mouth, distress, poor intake, or growth and hydration concerns.
The feeding team should consider airway stability, secretion management, oral movement and sensation, posture, endurance, gastrointestinal symptoms, and the person's experience. Instrumental assessment may be needed because clinical signs can underestimate aspiration. Positioning, pacing, texture, equipment, therapy, and oral or tube-feeding decisions should follow the individual's physiology, nutrition, goals, and quality of life.
AAC and access planning
AAC is appropriate whenever current communication does not meet the person's needs; it is not reserved for people without speech. Assessment should begin with a reliable language and sensory-access route, then match representations and access to usable hearing, vision, touch, movement, cognition, endurance, and environments. A visual screen is not accessible merely because it is large, and eye tracking may be limited by coloboma, visual field, ocular-motor, positioning, or fatigue factors.
A multimodal plan may include sign or tactile sign, objects, communication books, partner-assisted scanning, adapted direct selection, switches, text, or speech-generating technology. Choices should be tested with the person rather than assigned by diagnosis. Include pain, medical, consent, social, education or work, and emergency vocabulary; train partners; and keep a portable backup that remains accessible without power. See the AAC assessment and acquisition guide and ASHA AAC Practice Portal.
Participation, transition, and prognosis
Environments should support sensory access, safe exploration, communication autonomy, rest, predictable transitions, and orientation. Transition records should include the molecular and clinical diagnoses, airway and anesthesia history, cardiac and swallowing plans, hearing and vision access, endocrine care, medicines, communication profile, and the person's priorities.
Outcome varies with the specific congenital findings, respiratory and feeding safety, sensory access, health complications, communication, environment, and support. Neither the CHARGE acronym nor a CHD7 result provides an individual prognosis. Needs and strengths should be reassessed after health, sensory, communication, educational, work, or living changes.