ORPHA:2832
Short tarsus-absence of lower eyelashes syndrome
Synonyms: Lopes-Gorlin syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short tarsus-absence of lower eyelashes syndrome | Lopes-Gorlin syndrome |
| fr | Syndrome de tarses palpébraux courts-absence de cils inférieurs | Syndrome de Lopes-Gorlin |
| de | Syndrom des kurzen Tarsus mit fehlenden unteren Augenwimpern | Lopes-Gorlin-Syndrom |
| es | Síndrome de párpado superior anómalo-ausencia de pestañas | Síndrome de Lopes-Gorlin |
| it | Anomalia della palpebra superiore - assenza delle ciglia | Sindrome di Lopes-Gorlin |
| nl | Korte tarsus - afwezigheid van onderste wimpers-syndroom | Korte voetwortel - afwezigheid van onderste wimpers-syndroom · Syndroom van Lopes-Gorlin |
| pt | Síndrom de tarso curto-ausência das pestanas inferiores | Síndrome Lopes-Gorlin |
| pl | Krótki staw skokowy - brak dolnych rzęs | Zespół Lopesa i Gorlina |
| cs | Syndrom zahrnující krátké tarzální ploténky a absenci dolních očních řas | Lopesové-Gorlinův syndrom · Lopes-Gorlinův syndrom |
| uk | Синдром короткого тарсуса - відсутності нижніх вій | Синдром Лопеса-Горліна |
| zh | 短跗骨-下睫毛缺失综合征 | Lopes-Gorlin综合征 |
| tr | Kısa tarsus-alt kirpik yokluğu sendromu | Lopes-Gorlin sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600269 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0010855 | E | validated | |
| MeSH | C537036 | E | validated | |
| UMLS | C1838328 | E | validated | |
| GARD | 296 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
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 | 11 cases | Worldwide | Case(s) | Validated | 7889642[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7889642[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/2832
- This record as JSON: /data/d/2832.json