ORPHA:294965
Lethal congenital contracture syndrome
Synonyms: LCCS
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
A group of rare arthrogryposis syndromes characterized by fetal akinesia, multiple congenital contractures, anterior horn cell degeneration, skeletal muscle atrophy, and other features, depending on the subtype. All types are lethal in the fetal or neonatal period.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal congenital contracture syndrome | LCCS |
| fr | Syndrome des contractures congénitales létales | = en |
| de | Syndrom der kongenitalen letalen Kontrakturen | = en |
| es | Síndrome de contractura congénita letal | = en |
| it | Sindrome da contratture congenite letali | = en |
| nl | Letale congenitale contracturen-syndroom | = en |
| pt | Síndrome de contratura congénita letal | |
| pl | Śmiertelny zespół wrodzonych przykurczów | = en |
| cs | Letální syndrom vrozených kontraktur | = en |
| uk | Летальний синдром вродженої контрактури | = en |
| zh | 致死性先天性挛缩综合征 | 致死性先天性挛缩综合征 |
| tr | Letal doğumsal kontraktür sendromu | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017436 | E | validated | |
| MONDO | 17436 | E | validated | |
| UMLS | C5848326 | E | validated | |
| GARD | 12643 | 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:109007Arthrogryposis syndrome
rare developmental anomalies during embryogenesis - ORPHA:723416Genetic arthrogryposis syndrome
rare genetic diseases
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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/294965
- This record as JSON: /data/d/294965.json