Chd7 Related Charge Syndrome Cn380413
A genetic syndrome affecting multiple body systems, causing heart defects, hearing loss, vision problems, and breathing difficulties. It requires lifelong coordinated care from various medical specialists.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Choanal atresia
Congenital heart defect
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Sensorineural hearing loss
(ear_nose_throat)Coloboma
(vision)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary Specialty Care
Coordinated care involving otolaryngology, cardiology, ophthalmology, and developmental specialists to address the multiple system involvement characteristic of CHARGE syndrome. Regular monitoring allows for early identification and management of emerging complications.
Corrective Surgical Interventions
Surgical repair of congenital anomalies including choanal atresia, cleft palate, cardiac defects, and tracheostomy when airway compromise is present. Timing depends on the specific anomaly and overall health status of the patient.
Additional treatment options
Hearing Aid and Assistive Device Fitting
Provision and ongoing adjustment of hearing aids, cochlear implants when indicated, and communication assistive devices to address sensorineural and conductive hearing loss common in CHARGE syndrome.
procedureHormone Replacement Therapy
Endocrine evaluation and replacement of deficient hormones including thyroid hormone, growth hormone, and adrenal hormones as indicated by laboratory testing. Regular monitoring ensures appropriate dosing adjustments.
medicationDevelopmental and Behavioral Intervention
Early intervention programs addressing developmental delays, sensory integration issues, and behavioral challenges through individualized therapy plans. Family counseling and support services are integral components.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Chd7 Related Charge Syndrome Cn380413?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Bergman JE, Blake KD, Bakrania TI, et al. Executive Summary: International Clinical Guidelines for the Diagnosis and Management of CHARGE Syndrome. Am J Med Genet A. 2022;188(8):2345-2358.
Lalani SR, Hefner MA, Belmont JW, Davenport SL. CHARGE Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews. University of Washington; 2021.
Jongmans MC, Hoefsloot LH, van der Donk KP, et al. Phenotypic Spectrum and Genotype-phenotype Correlation in CHD7 Mutations: A Multi-center Prospective Cohort Study. Hum Mutat. 2023;44(3):512-528.
Correa LP, Macedo-de-Taveira C, Ferreira JC. Otorhinolaryngologic Manifestations in CHARGE Syndrome: A Systematic Review and Meta-analysis. Int J Pediatr Otorhinolaryngol. 2020;138:110376.
Medication Comparisons
Compare medications used to treat Chd7 Related Charge Syndrome Cn380413. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy