Medical ConditionsCraniofacial & dental genetics: CHARGE syndrome
Medical ConditionsCraniofacial & dental genetics: CHARGE syndrome
CHARGE syndrome
Overview
Board takeaway: Airway obstruction, cranial-nerve-related dysphagia, and sensory impairment drive dental planning in CHARGE syndrome.
What does CHARGE describe and what causes it?
CHARGE names a pattern of coloboma, heart defects, choanal atresia, growth or developmental restriction, genital abnormalities, and ear abnormalities. CHD7-related disease is usually autosomal dominant with a de novo pathogenic variant. The mnemonic helps recall associated systems; not every feature is present in every child.
Which systemic findings matter before dental treatment in CHARGE syndrome?
Choanal obstruction, cranial nerve dysfunction, swallowing difficulty, reflux, tracheoesophageal anomalies, and laryngeal or tracheal abnormalities increase airway and aspiration concerns. Hearing and visual impairment can coexist. Growth, endocrine, renal, and cardiac abnormalities require review. Communicate through the child's useful sensory channels rather than assuming limited response means limited understanding.
What oral findings are reported in CHARGE syndrome?
Cleft lip or palate, submucous clefting, high palate, micrognathia, missing or extra teeth, abnormal eruption, and taurodontism are reported. Facial weakness, bruxism, mouth breathing, and poor clearance may affect oral function. Tube-fed children may accumulate calculus and still have caries exposures when tasting foods or taking medicines orally.
How should dental care be adapted for CHARGE syndrome?
- Assess airway and swallowing: review choanal repair, sleep symptoms, aspiration history, and the feeding team's recommendations.
- Adapt communication: use caregiver support, tactile or visual cues as appropriate, and predictable visits.
- Protect the airway during care: positioning, suction, and controlled water or debris delivery.
- Review cardiac status: prophylaxis depends on qualifying lesion, repair, and procedure, rather than the syndrome label.
- Plan anesthesia: complex airway or cardiopulmonary disease may require a hospital team and postoperative observation.
What treatment and prognosis apply to CHARGE syndrome?
Treatment addresses airway obstruction, feeding, hearing and vision, cardiac disease, endocrine needs, and development. Prognosis varies with associated malformations and early airway or cardiac complications. Dental prevention and continuity of care remain important as the child grows.