Congenital central hypoventilation syndrome (CCHS, Ondine's curse) is a rare disorder of the chemical control of breathing.

Congenital central hypoventilation syndrome is frequently associated with a broad spectrum of dysautonomic symptoms, suggesting the involvement of genes widely expressed in the autonomic nervous system.

Pathology

 ASCL1-PHOX2A-PHOX2B developmental cascade anomalies

• The ASCL1-PHOX2A-PHOX2B developmental cascade controls the development of neurons with a definitive or transient noradrenergic phenotype, upstream from the RET receptor tyrosine kinase and tyrosine hydroxylase.
• PHOX2B gene mutation in congenital central hypoventilation syndrome and late-onset central hypoventilation (#15334515#) (60% of cases).
• ASCL1 gene germline mutations