ORPHA:99803
Haddad syndrome
Also called Congenital central alveolar hypoventilation-Hirschsprung disease syndrome, Ondine-Hirschsprung disease, Ondine-Hirschsprung syndrome
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal dominant, Multigenic/multifactorial
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:99803 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Strabismus
- Failure to thrive
- Small for gestational age
- Aganglionic megacolon
- Breathing dysregulation
- Central hypoventilation