ORPHA:2997
Ptosis-vocal cord paralysis syndrome
historical
Synonyms: Tucker syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ptosis-vocal cord paralysis syndrome | Tucker syndrome |
| fr | Syndrome de ptosis-paralysie des cordes vocales | Syndrome de Tucker |
| de | Ptosis-Stimmbandlähmung-Syndrom | Tucker-Syndrom |
| es | Síndrome de ptosis-parálisis de las cuerdas vocales | Síndrome de Tucker |
| it | Sindrome ptosi e paralisi delle corde vocali | Sindrome di Tucker |
| nl | Ptosis - paralyse van stemband-syndroom | Ptosis - stembandverlamming-syndroom · Syndroom van Tucker |
| pt | Síndrome de ptose-parésia das cordas vocais | Síndrome Tucker |
| pl | Zespół ptozy i porażenia fałdów głosowych | Zespół Tuckera · Zespół Tuckera |
| cs | Syndrom zahrnující ptózu a paralýzu hlasivek | Tuckerův syndrom |
| uk | Синдром птозу-паралічу голосових звязок | Синдром Такера |
| zh | 睑下垂-声带麻痹综合征 | Tucker综合征 |
| tr | Pitoz-vokal kord paraliz sendromu | Tucker sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193240 | E | validated | |
| ICD-10 | J38.0 | NTBT | attributed | validated |
| ICD-11 | CA0H.0 | NTBT | attributed | validated |
| MONDO | 0008665 | E | validated | |
| MeSH | C536923 | E | validated | |
| UMLS | C1860403 | E | validated | |
| GARD | 427 | 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:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
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 | 2 cases | Worldwide | Case(s) | Validated | 6633110[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6633110[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
6 annotations · validated 2017-09-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002301 | Hemiplegia | |
| HP:0001611 | Hypernasal speech | |
| HP:0001601 | Laryngomalacia | |
| HP:0000508 | Ptosis | |
| Frequent (79-30%) | ||
| HP:0001622 | Premature birth | |
| HP:0003510 | Severe short stature | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2997
- This record as JSON: /data/d/2997.json