The main symptom is the person's inability to breathe deeply enough, leading to a need for assisted ventilation, most commonly beginning shortly after birth. Affected individuals also do not feel breathlessness and so under-breathe during feeding, exercise or when concentrating. The condition ranges in severity with the worst affected under-breathing both during sleep and when awake. Those least affected may not present till older and may be mildly affected during sleep and with normal breathing when awake.
Children with CCHS may have other problems related to the body's automatic nervous system, including:
- Hirschsprung's disease - a failure of the bowel to move normally
- swallowing difficulties
- heart rhythm disorders (see entry Heart Defects)
- increased risk of tumours of nerve tissue
- 'blue-breath holding' episodes - stopping breathing and turning blue when crying
- fainting episodes
- epileptic or absence seizures (see entry Epilepsy)
- learning difficulties (see entry Learning Disability)
- eye problems, such as squints
- unusual responses to anaesthestic
- poor temperature control.