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Haddad syndrome

Synonym(s) Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Multigenic/multifactorial
Age of onset Infancy
  • G47.3
  • C1859587
  • C536209
MedDRA -


Disease definition

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).


Birth incidence of Ondine syndrome is 1 in 200,000 live-births and Hirschsprung disease occurs concurrently in 16% of cases.

Clinical description

Intestinal aganglionosis is more extensive, and the gender ratio is 1:1, unlike in classical Hirschsprung disease.


Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome.

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