Respiratory |
Alveolar hypoventilation, with increased PCO2 and hypoxemia. Low tidal volume and/or respiratory rate. |
Lack of normal ventilatory and arousal responses to hypercarbia and hypoxemia |
Limited breath-to-breath variability |
Cardiac |
Decreased beat-to-beat variability of heart rate |
Attenuated heart rate response to exercise |
Orthostatic hypotension |
Attenuation of normal sleep-related blood pressure decrement |
Prolonged sinus pauses |
Facial features |
Box-shaped face (shorter and flatter), with inferior reflection of the lateral segment of the vermillion border on the upper lip |
Gastrointestinal |
Hirschsprung disease (16 to 20%) |
Severe constipation |
Esophageal dysmotility; dysphagia |
Neural crest tumors |
eg, neuroblastoma, ganglioneuroblastoma, or ganglioneuroma |
Ophthalmologic |
Pupillary abnormalities (meiosis; altered pupillary response to light) |
Altered accommodation (with accommodative strabismus) |
Neuropsychological |
Decreased perception of anxiety |
Cognitive delays |
Sudomotor |
Sporadic profuse sweating |
Decreased basal body temperature |
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