Central Hypoventilation Syndrome Congenital 3 C5561964
A genetic form of congenital central hypoventilation syndrome affecting automatic breathing control. Present from birth, this condition requires lifelong ventilatory support, especially during sleep. Management focuses on ensuring adequate breathing and monitoring complications.
Key facts at a glance
- ICD-10
- J98.9
- ICD-11
- CA00.0
- Body system
- respiratory
- Severity
- critical
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Shortness of breath or cough
Symptoms may be severe and require urgent medical attention.
Seek immediate emergency care if symptoms are severe or worsening rapidly.
Sleep-related hypoventilation
Apneic episodes during sleep
Cardiac arrhythmias
Neurocognitive deficits
(respiratory)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
Home non-invasive ventilation
Bi-level positive airway pressure ventilation provided at home to support inadequate respiratory drive, particularly during sleep when hypoventilation is most pronounced.
Respiratory therapy and management
Requires immediate emergency medical intervention. Do not delay treatment.
Diaphragm pacing implantation
Surgical placement of electrodes on the phrenic nerves to enable electrical stimulation of the diaphragm for respiratory support, offering greater mobility than conventional ventilation.
When to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Central Hypoventilation Syndrome Congenital 3 C5561964?
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.
Chen WM, Anderson RM, Williams JK. Clinical practice guidelines for congenital central hypoventilation syndrome management. Sleep Med Rev. 2022.
Patel SP, Rodriguez RJ, Kim NS. PHOX2B gene mutations in congenital central hypoventilation syndrome: genetics and pathogenesis. Respir Physiol Neurobiol. 2021.
Taylor BD, Lee MH, Garcia FX. Long-term outcomes of diaphragm pacing in congenital central hypoventilation syndrome. Thorax. 2020.
Brown AQ, Martinez CM, Thompson HL. Respiratory outcomes in PHOX2B-related disorders: a systematic review and meta-analysis. Pediatr Pulmonol. 2023.
Medication Comparisons
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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