ORPHA:99803
Haddad syndrome
Synonyms: Congenital central alveolar hypoventilation-Hirschsprung disease syndrome · Ondine-Hirschsprung disease · Ondine-Hirschsprung syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Multigenic/multifactorial
- Age of onset
- Infancy, Neonatal
- Status
- active
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Haddad syndrome | Congenital central alveolar hypoventilation-Hirschsprung disease syndrome · Ondine-Hirschsprung disease · Ondine-Hirschsprung syndrome |
| fr | Syndrome de Haddad | Maladie d'Ondine-Hirschsprung · Syndrome d'Ondine-Hirschsprung · Syndrome d'hypoventilation alvéolaire centrale congénitale-maladie de Hirschsprung |
| de | Haddad-Syndrom | |
| es | Síndrome de Haddad | Enfermedad de Ondine-Hirschsprung · Hipoventilación alveolar central congénita-enfermedad de Hirschsprung · Síndrome de Ondine-Hirschsprung |
| it | Sindrome di Haddad | Ipoventilazione alveolare centrale congenita - malattia di Hirschsprung · Malattia di Ondine-Hirschsprung · Sindrome di Ondine-Hirschsprung |
| nl | Syndroom van Haddad | Congenitale centrale alveolaire hypoventilatie - ziekte van Hirschsprung-syndroom · Syndroom van Ondine-Hirschsprung · Ziekte van Ondine-Hirschsprung |
| pt | Síndrome de Haddad | |
| pl | Zespół Haddada | Choroba Ondine'a i Hirschsprunga · Wrodzona ośrodkowa hipowentylacja pęcherzykowa - choroba Hirschsprunga · Zespół Ondine'a i Hirschsprunga |
| cs | Haddadův syndrom | Syndrom zahrnující vrozenou centrální alveolární hypoventilaci a Hirschsprungovu nemoc · Ondinina kletba s Hirschprungovou nemocí |
| uk | Синдром Хаддада | Синдром вродженої центральної альвеолярної гіповентиляції - хвороба Гіршпрунга · Хвороба Ондіна-Гіршпрунга · Синдром Ондіна-Гіршпрунга |
| zh | Haddad综合征 | 先天性中央肺泡低通气-先天性巨结肠综合征 |
| tr | Haddad sendromu | Ondine-Hirschsprung hastalığı · Ondine-Hirschsprung sendromu · Doğumsal santral alveolar hipoventilasyon-Hirschsprung hastalığı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 209880 | NTBT | validated | |
| ICD-10 | G47.3 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0020493 | E | validated | |
| UMLS | C1859049 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:423662Rare autonomic nervous system disorder
rare neurological diseases - ORPHA:104009Rare disease involving intestinal motility
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:557866Rare disorder with Hirschsprung disease as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:434786Rare genetic autonomic nervous system disorder
rare genetic diseases - ORPHA:156610Rare genetic respiratory disease
rare genetic diseases - ORPHA:101944Rare pulmonary disease
rare respiratory diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASCL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:738 | ENSG00000139352 | 100790 | 12q23.2 | achaete-scute family bHLH transcription factor 1 | |
| PHOX2B | Disease-causing germline mutation(s) in | Assessed | HGNC:9143 | ENSG00000109132 | 603851 | 4p13 | paired like homeobox 2B | |
| RET | Disease-causing germline mutation(s) in | Assessed | HGNC:9967 | ENSG00000165731 | 164761 | 10q11.21 | ret proto-oncogene | 9565426[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0005957 | Breathing dysregulation | |
| HP:0007110 | Central hypoventilation | |
| HP:0010536 | Central sleep apnea | |
| HP:0001508 | Failure to thrive | |
| HP:0001518 | Small for gestational age | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0001522 | Death in infancy | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001558 | Decreased fetal movement | |
| HP:0003005 | Ganglioneuroma | |
| HP:0003006 | Neuroblastoma | |
| HP:0001562 | Oligohydramnios | |
| HP:0001561 | Polyhydramnios | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 26086998[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99803
- This record as JSON: /data/d/99803.json