ORPHA:2351
Kousseff syndrome
Synonyms: Sacral meningocele-conotruncal heart defects syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kousseff syndrome | Sacral meningocele-conotruncal heart defects syndrome |
| fr | Syndrome de Kousseff | Syndrome de meningocèle sacré-anomalie conotroncale |
| de | Kousseff-Syndrom | |
| es | Síndrome de Kousseff | |
| it | Sindrome di Kousseff | Meningocele del sacro - cardiopatia troncoconale |
| nl | Syndroom van Kousseff | Sacrale meningocele - conotruncale hartdefecten-syndroom |
| pt | Síndrome Kousseff | Síndrome de meningocelo sagrado-cardiopatia conotruncal |
| pl | Zespół Kousseffa | Krzyżowa przepuklina oponowa - wady stożka i pnia naczyniowego serca |
| cs | Kousseffův syndrom | Syndrom zahrnující sakrální meningokélu a konotrunkální srdeční vady |
| uk | Синдром Куссефа | Синдром крижового менінгоцеле-конотрункулярної вади серця |
| zh | Kousseff综合征 | 脊膜膨出-圆锥动脉干畸形综合征 |
| tr | Kousseff sendromu | Sakral meningosel-konotrunkal kalp defektleri sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0016522 | E | validated | |
| MeSH | C537223 | E | validated | |
| UMLS | C2931444 | E | validated | |
| GARD | 4752 | 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 (1):
- ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 22380655[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22380655[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2351
- This record as JSON: /data/d/2351.json