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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).
ORPHA:99803Classification level: Disorder
- 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, Neonatal
- ICD-10: G47.3
- OMIM: 209880
- UMLS: C1859049 C1859587
- MeSH: C536209
- GARD: -
- MedDRA: -
Birth incidence of Ondine syndrome is 1 in 200,000 live-births and Hirschsprung disease occurs concurrently in 16% of cases.
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.