ORPHA:404577
Genetic syndrome with limb malformations as a major feature
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic syndrome with limb malformations as a major feature | |
| fr | Syndrome d'origine génétique avec anomalie des membres comme manifestation majeure | |
| de | Genetische Syndrome mit Extremitätenfehlbildung als Hauptmerkmal | |
| es | Síndrome genético con malformaciones de las extremidades como característica principal | |
| it | Sindrome genetica con malformazione degli arti come segno cardinale | |
| nl | Genetisch syndroom met ledemaatmalformaties als hoofdkenmerk | |
| pt | Síndrome genética com malformações nos membros como característica principal | |
| pl | Zespół genetyczny z malformacjami kończyn jako głównym objawem | |
| cs | Geneticky podmíněné syndromy s malformacemi končetin jako hlavním příznakem | |
| uk | Генетично обумовлений синдром, основною ознакою якого є вади розвитку кінцівок | |
| zh | 以肢体畸形为主要特征的遗传综合征 | |
| tr | Esas klinik özelliği ekstremite malformasyonu olan genetik sendrom |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681141 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:183536Genetic congenital limb malformation
rare genetic diseases
Children (15):
- ORPHA:1325Camptodactyly-taurinuria syndrome
- ORPHA:444941Caudal regression-sirenomelia spectrum
- ORPHA:69028Dysostosis with brachydactyly
- ORPHA:294957Dysostosis with combined reduction defects of upper and lower limbs
- ORPHA:1927Emery-Nelson syndrome
- ORPHA:3294Extensor tendons of finger anomalies
- ORPHA:199315Familial clubfoot with or without associated lower limb anomalies
- ORPHA:465824Fetal encasement syndrome
- ORPHA:723416Genetic arthrogryposis syndrome
- ORPHA:404574Genetic syndrome with limb reduction defects
- ORPHA:228184Heart-hand syndrome
- ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
- ORPHA:93459Syndrome with synostosis or other joint formation defect
- ORPHA:592570TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
- ORPHA:2251Thumb deformity-alopecia-pigmentation anomaly syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/404577
- This record as JSON: /data/d/404577.json