Acrodysplasia scoliosis
historical
Synonyms: Brachydactyly-scoliosis-carpal fusion syndrome · Prata-Liberal-Goncalves syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrodysplasia scoliosis | Brachydactyly-scoliosis-carpal fusion syndrome · Prata-Liberal-Goncalves syndrome |
| fr | Syndrome d'acrodysplasie-scoliose | Syndrome de Prata-Liberal-Goncalves · Syndrome de brachydactylie-scoliose-fusion des carpes |
| de | Akrodysplasie - Skoliose | Brachydaktylie - Skoliose - karpale Fusion · Prata-Liberal-Goncalves-Syndrom |
| es | Acrodisplasia-escoliosis | Síndrome de Prata-Liberal-Goncalves · Síndrome de braquidactilia-escoliosis-fusión del carpo |
| it | Acrodisplasia - scoliosi | Acrodisplasia - scoliosi · Brachidattilia - scoliosi - fusione dei carpi |
| nl | Acrodysplasia scoliosis | Brachydactylie - scoliose - carpale fusie-syndroom · Syndroom van Prata-Liberal-Goncalves |
| pt | Acrodisplasia-escoliose | Síndrome Prata-Liberal-Goncalves · Síndrome de braquidactilia-escoliose-sinostose do carpo |
| pl | Zespół Prata, Liberala i Goncalvesa | Brachydaktylia - skolioza - fuzja kości nadgarstka · Dysplazja kończyn - skolioza |
| cs | Prataův-Liberalův-Goncalvesův syndrom | Acrodysplasia scoliosis · Syndrom zahrnující brachydaktylii, skoliózu a karpální fúzi · Prata-Liberal-Goncalvesův syndrom |
| uk | Акродисплазійний сколіоз | Синдром брахідактилії-сколіозу-зрощення запястка · Синдром Прата-Ліберала-Гонкальвеса |
| zh | 尖头并指脊柱侧凸 | 短指（趾）畸形-脊柱侧弯-腕骨融合综合征 |
| tr | Akrodisplazi skolyoz | Prata-Liberal-Goncalves sendromu · Brakidaktili-skolyoz-karpal füzyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0017568 | E | validated | |
| MeSH | C538180 | E | validated | |
| UMLS | C2931761 | E | validated | |
| GARD | 491 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 6335370[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6335370[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.
HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0002650 | Scoliosis | |
| Frequent (79-30%) | ||
| HP:0003298 | Spina bifida occulta | |
| HP:0003422 | Vertebral segmentation defect | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2956
- This record as JSON: /data/d/2956.json