ORPHA:2823
OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome
inactive · referred to ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Synonyms: OBSOLETE: Fitzsimmons-Guilbert syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Status
- inactive
- Flag
- Obsolete entity
This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Autosomal recessive spastic ataxia of Charlevoix-Saguenay
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome | OBSOLETE: Fitzsimmons-Guilbert syndrome |
| fr | OBSOLETE : Syndrome de paraplégie-brachydactylie-épiphyses en cône | OBSOLETE : Syndrome de Fitzsimmons-Guilbert |
| de | OBSOLET: Paraplegie-Brachydaktylie-Zapfenepiphysen-Syndrom | OBSOLET: Fitzsimmons-Guilbert-Syndrom |
| es | OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome | |
| it | OBSOLETO: Sindrome paraplegia-brachidattilia-epifisi a cono | OBSOLETO: Sindrome di Fitzsimmons-Guilbert |
| nl | OBSOLEET: Paraplegie - brachydactylie - kegelvormige epifyse-syndroom | OBSOLEET: Syndroom van Fitzsimmons-Guilbert |
| pt | OBSOLETO: Síndrome de paraplegia-braquidactilia-epífises cuneiformes | OBSOLETO: Síndrome Fitzsimmons-Guilbert |
| pl | NIEAKTUALNE: Paraplegia - brachydaktylia - nasady kosci w ksztalcie stozka | NIEAKTUALNE: Zespół Fitzsimmonsa i Guilberta |
| cs | NEAKTUÁLNÍ: Syndrom zahrnující paraplegii, brachydaktylii a epifýzu kuželovitého tvaru | NEAKTUÁLNÍ: Fitzsimmonsův-Guilbertové syndrom · NEAKTUÁLNÍ: Fitzsimmons-Guilbertové syndrom |
| uk | ЗАСТАРІЛО: Синдром параплегії-брахідактилії-конусоподібного епіфіза | ЗАСТАРІЛО: Синдром Фітцсіммонса-Гільберта |
| zh | 弃用：截瘫-短指畸形-锥状骨骺综合征 | Fitzsimmons-Guilbert综合征 |
| tr | Eski adı: Parapleji-brakidaktili-koni şeklindeki epifiz sendromu | Fitzsimmons-Guilbert sendromu |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Not placed in any Orphanet classification in this release.
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/2823
- This record as JSON: /data/d/2823.json