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Haddad syndrome
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).
ORPHA:99803
Classification level: Disorder- 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, Neonatal
- ICD-10: G47.3
- OMIM: 209880
- UMLS: C1859049 C1859587
- MeSH: C536209
- GARD: -
- MedDRA: -
Summary
Epidemiology
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.
Etiology
Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome.
Detailed information
Professionals
- Anesthesia guidelines
- English (2014, pdf)
- Clinical genetics review
- English (2014)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.