congenital central hypoventilation syndrome

An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in

An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.

Signs and symptoms

• Hypoventilation
• Central hypoventilation
• Nocturnal hypoventilation
• Decreased heart rate variability
• Downslanted palpebral fissures
• Ganglioneuroma
• Feeding difficulties
• Hypercapnia
• Abnormality of temperature regulation
• Hypoxemia

Also known as: CCHS; Ondine curse; Ondine syndrome; central congenital hypoventilation syndrome; congenital central alveolar hypoventilation syndrome