Living with Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
A condition of the nervous system that controls automatic functions, which affects breathing, especially during sleep.
Understanding Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
The classic form usually starts soon after birth, and a milder form can appear later in toddlers, children, and adults. Infants may breathe too shallowly when they fall asleep and may have a bluish look to the skin or lips. Other signs can include trouble regulating heart rate and blood pressure, lower pain sensing, low body temperature, sweating, and Hirschsprung disease.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Breathing problems, especially in sleep
- Problems with the autonomic nervous system
- Bluish skin or lips (cyanosis)
- Trouble regulating heart rate and blood pressure
- Lower sense of pain
- Hirschsprung disease (colon lacking nerve cells)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in PHOX2B are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
CCHS Network may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: CCHS Network
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CCHS Network
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PHOX2B gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: autonomic control, congenital failure of; cchs; cchs1; central congenital hypoventilation syndrome; central hypoventilation syndrome, congenital, 1; central hypoventilation syndrome, congenital, 1, with or without hirschsprung
Patient organizations
- CCHS NetworkCentral hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease · United States
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