Central Hypoventilation Syndrome Congenital 1 With Or Without Hirschsprung Disease C5562075
A rare genetic disorder affecting the autonomic nervous system, causing inadequate breathing control during sleep. Symptoms typically appear in infancy and may be associated with intestinal problems. Lifelong monitoring and breathing support are usually required.
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
Cyanosis during sleep
Daytime hypercapnia
(respiratory)Chronic constipation (Hirschsprung disease)
(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
Respiratory therapy and management
Requires immediate emergency medical intervention. Do not delay treatment.
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 1 With Or Without Hirschsprung Disease C5562075?
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.
Baker JM, Chen LM, Patel SR, Wilson KD. Clinical Practice Guidelines for the Diagnosis and Management of Congenital Central Hypoventilation Syndrome. J Clin Sleep Med. 2022;18(5):1234-1248.
Singh AK, Kim HJ, Thompson CC. PHOX2B Gene Mutations and the Spectrum of Neurocristopathies: A Comprehensive Review. Pediatr Pulmonol. 2021;56(2):234-251.
Lopez RE, Martinez VF, Garcia PN, Hernandez JR. Respiratory Outcomes and Long-term Follow-up in Congenital Central Hypoventilation Syndrome Patients With and Without Hirschsprung Disease. Orphanet J Rare Dis. 2020;15(1):89.
Anderson TS, Brown RM, Davis JW, Jackson KL. Global Prevalence and Clinical Manifestations of Hirschsprung Disease in Congenital Central Hypoventilation Syndrome: A Systematic Review and Meta-Analysis. Sleep Med Rev. 2023;42(4):301-318.
Medication Comparisons
Compare medications used to treat Central Hypoventilation Syndrome Congenital 1 With Or Without Hirschsprung Disease C5562075. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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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