Haddad syndrome
Findings
No curated finding names Haddad syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.
Definition from the Mondo Disease Ontology (MONDO:0020493), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Very frequent (80% to 99% of cases)
- Aganglionic megacolonHPOHP:0002251
- Very frequent (80% to 99% of cases)
- Breathing dysregulationHPOHP:0005957
- Very frequent (80% to 99% of cases)
- Central hypoventilationHPOHP:0007110
- Very frequent (80% to 99% of cases)
- Central sleep apneaHPOHP:0010536
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
Show the remaining 6
- Decreased fetal movementHPOHP:0001558
- Occasional (5% to 29% of cases)
- GanglioneuromaHPOHP:0003005
- Occasional (5% to 29% of cases)
- NeuroblastomaHPOHP:0003006
- Occasional (5% to 29% of cases)
- OligohydramniosHPOHP:0001562
- Occasional (5% to 29% of cases)
- PolyhydramniosHPOHP:0001561
- Occasional (5% to 29% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Occasional (5% to 29% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
3 names
Resolves to: Haddad syndrome
- Also called
- congenital central alveolar hypoventilation-Hirschsprung disease syndromeondine-Hirschsprung diseaseondine-Hirschsprung syndrome