The genetics of congenital central hypoventilation syndrome: clinical implications

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to as Ondine’s curse, is due to a mutation in the PHOX2B gene that affects the development of the neural crest cells. CCHS has an autosomal dominant pattern of inheritance. Majority of the patients have a polyalanine repeat mutation (PARM) of the PHOX2B, while a small group has non-PARM (NPARM). Knowledge of the patient’s PHOX2B gene mutation helps predict a patient’s clinical presentation and outcome and aids in anticipatory management of the respiratory and ANS dysfunction.