Neurocristopathy with congenital central alveolar hypoventilation is a rare disorder.
Synonym: Ondine-Hirschsprung syndrome, Haddad syndrome
Chromosome location: 4p13
Gene affected: PHOX2B (paired like homeobox 2B)
The consequence of the mutation is defective neural crest cell migration and function.
(1) congenital central alveolar hypoventilation with central sleep apnea, with need for ventilatory support during sleep
(2) Hirschsprung disease
(3) predisposition to neuroblastoma, which may be present at birth
(4) variable seizures
(5) variable deafness
(6) variable unreactive pupils
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Specialty: Genetics, Pulmonology