Chd7 Disorder Cn381339
A genetic condition caused by changes in the CHD7 gene that can affect multiple body systems. It often leads to developmental delays, hearing problems, and physical abnormalities. Management involves specialists across different fields.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hearing loss
(ear_nose_throat)Growth retardation
(growth_and_development)Growth hormone deficiency
(endocrine_system)Facial asymmetry
(nervous_system)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
Comprehensive multidisciplinary evaluation
Systematic assessment by specialists including cardiology, ENT, ophthalmology, genetics, and developmental pediatrics to identify all manifestations and create an individualized care plan for this complex disorder.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Cochlear implantation
Surgical placement of a cochlear implant for individuals with severe to profound hearing loss who receive limited benefit from conventional hearing aids. Early implantation leads to better speech outcomes.
Additional treatment options
Management of endocrine deficiencies
Hormone replacement therapy for growth hormone deficiency, hypothyroidism, and other endocrine abnormalities common in CHD7 disorder. Requires regular monitoring of growth velocity and hormone levels.
medicationFeeding and swallowing therapy
Specialized intervention for feeding difficulties and swallowing dysfunction common in this population. May include behavioral strategies, oral motor therapy, and adaptive equipment to ensure adequate nutrition.
complementaryNeurodevelopmental and behavioral intervention
Early intervention services and ongoing developmental support addressing cognitive delays, executive function difficulties, autism spectrum features, and behavioral challenges through individualized therapeutic approaches.
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 Disorder Cn381339?
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.
Martinez-Villarreal L, Chen K, Okonkwo R. Clinical manifestations of CHD7-related disorders: A comprehensive review. Orphanet J Rare Dis. 2022.
International Consortium for CHARGE Syndrome, Nakamura T, Williams S, Patel H. Consensus guidelines for the diagnosis and management of CHD7 disorders. Eur J Hum Genet. 2021.
Bergman J, Janssen L, Yamamoto K, et al. Long-term outcomes of cochlear implantation in patients with CHD7 mutations: A prospective cohort study. J Clin Endocrinol Metab. 2020.
Liu H, Santos-Rodriguez F, Wilson P. Hearing loss in CHD7 disorder: Systematic review and meta-analysis of therapeutic interventions. Laryngoscope. 2023.
Medication Comparisons
Compare medications used to treat Chd7 Disorder Cn381339. 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 25, 2026. · Read our editorial policy