ORPHA:99170
Tarsal kink syndrome
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tarsal kink syndrome | |
| fr | Syndrome tarsal kink | |
| de | Syndrom der genickten Lidplatte | |
| es | Síndrome del tarso torcido | |
| it | Sindrome del nodo tarsale | |
| nl | Tarsale kink-syndroom | |
| pt | Síndrome torção tarsíca | |
| pl | Zespół węzła tarczki | |
| cs | Syndrom zvlněné tarzální ploténky | |
| uk | Синдром тарзального залому | |
| zh | 睑板扭结综合征 | |
| tr | Tarsal kink sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q10.3 | NTBT | attributed | validated |
| ICD-11 | LA14.0Y | NTBT | attributed | validated |
| MONDO | 0020462 | E | validated | |
| UMLS | C1303000 | 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 (2):
- ORPHA:519270Rare disorder with entropion
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522530Rare genetic disorder with entropion
rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/99170
- This record as JSON: /data/d/99170.json