[3] CHS is associated with respiratory arrests during sleep and, in some cases, to neuroblastoma (tumors of the sympathetic ganglia), Hirschsprung disease (partial agenesis of the enteric nervous system),[7] dysphagia (difficulty swallowing) and anomalies of the pupilla.

Other symptoms include darkening of skin color from inadequate amounts of oxygen, drowsiness, fatigue, headaches, and an inability to sleep at night.

[8] Associated complications may also include gastro-esophageal reflux, ophthalmologic issues, seizures, recurrent pneumonia, developmental delays, learning disabilities, episodes of fainting, and temperature disregulation.

[9] CHS is exhibited typically as a congenital disorder, but in rare circumstances, can also result from severe brain or spinal trauma or injury (such as after an automobile accident, stroke, asphyxiation, brain tumor, encephalitis, poisoning, as a complication of neurosurgery) or due to particular neurodegenerative conditions such as Parkinson's disease, multiple system atrophy, or multiple sclerosis.

Long and Allen (1984) were the first to report the abnormal brainstem auditory-evoked responses in an alcoholic woman who recovered from Ondine's curse.

[10] Medical investigation of patients with this syndrome has led to a deeper understanding of how the body and brain regulate breathing on a molecular level.

Medical evaluation excludes lesions of the brain, heart, and lungs but demonstrates impaired responses to build-up of carbon dioxide (hypercapnia) and decreases of oxygen in the circulation (hypoxia), the two strongest stimuli to increase breathing rate.

Specifically, infants with CCHS usually display lower tidal volumes during sleep, meaning they inhale less air during a normal breath.

In some locations, such as France, optimal management of patients, once identified, has been aided by the creation of a national registry and the formation of a network of centers.

On meeting Ondine again, Hans tells her that "all the things my body once did by itself, it does now only by special order ... A single moment of inattention and I forget to breathe".

Since being coined in 1962 the name has become controversial in medical literature, as later summaries frequently misunderstood the plot of Ondine and its connection to the diagnosis.