Clinical Features of Neurocristopathy with Congenital Central Alveolar Hypoventilation (Ondine-Hirschsprung Syndrome, Haddad Syndrome)

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.

Clinical features:

(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