ORPHA:404574
Genetic syndrome with limb reduction defects
- 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 reduction defects | |
| fr | Syndrome d'origine génétique avec anomalies réductionnelles des membres | |
| de | Genetische Syndrome mit Reduktionsdefekten der Extremitäten | |
| es | Síndrome genético con defectos por reducción de extremidades | |
| it | Sindrome genetica con difetti da riduzione degli arti | |
| nl | Genetisch syndroom met reductiedefect van ledemaat | |
| pt | Síndrome genética com defeitos de redução de membros | |
| pl | Zespół genetyczny ze skróceniem kończyn | |
| cs | Geneticky podmíněné syndromy s redukčními defekty končetin | |
| uk | Генетично обумовлений синдром з дефектами редукції кінцівок | |
| zh | 短肢缺陷遗传综合征 | |
| tr | Ekstremite redüksiyon defekti ile seyreden genetik sendrom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681142 | 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 (2):
- ORPHA:404571Dysostosis of genetic origin with limb anomaly as a major feature
rare genetic diseases - ORPHA:404577Genetic syndrome with limb malformations as a major feature
rare genetic diseases
Children (47):
- ORPHA:978ADULT syndrome
- ORPHA:2310Absence deformity of leg-cataract syndrome
- ORPHA:3016Absent radius-anogenital anomalies syndrome
- ORPHA:3328Absent tibia-polydactyly-arachnoid cyst syndrome
- ORPHA:974Adams-Oliver syndrome
- ORPHA:1071Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- ORPHA:1112Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
- ORPHA:1113Aphalangy-syndactyly-microcephaly syndrome
- ORPHA:1326Camptodactyly syndrome, Guadalajara type 2
- ORPHA:221139Combined immunodeficiency with facio-oculo-skeletal anomalies
- ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- ORPHA:199Cornelia de Lange syndrome
- ORPHA:2492FATCO syndrome
- ORPHA:84Fanconi anemia
- ORPHA:1988Femoral-facial syndrome
- ORPHA:2639Fibular aplasia-complex brachydactyly syndrome
- ORPHA:2854Fuhrmann syndrome
- ORPHA:1986Gollop-Wolfgang complex
- ORPHA:1354Heart defects-limb shortening syndrome
- ORPHA:392Holt-Oram syndrome
- ORPHA:3383Humerus trochlea hypoplasia
- ORPHA:989Hypoglossia-hypodactyly syndrome
- ORPHA:2307IVIC syndrome
- ORPHA:1891Intellectual disability-spasticity-ectrodactyly syndrome
- ORPHA:2329Karsch-Neugebauer syndrome
- ORPHA:1972Lethal faciocardiomelic dysplasia
- ORPHA:238744Mammary-digital-nail syndrome
- ORPHA:93293Okihiro syndrome
- ORPHA:496693Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
- ORPHA:2839Pelvis-shoulder dysplasia
- ORPHA:93333Pelviscapular dysplasia
- ORPHA:2879Phocomelia, Schinzel type
- ORPHA:2730Postaxial tetramelic oligodactyly
- ORPHA:3021RAPADILINO syndrome
- ORPHA:3015Radio-renal syndrome
- ORPHA:3103Roberts syndrome
- ORPHA:2063Splenogonadal fusion-limb defects-micrognathia syndrome
- ORPHA:71271Split hand-split foot-deafness syndrome
- ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome
- ORPHA:3301Tetraamelia-multiple malformations syndrome
- ORPHA:2564Tetramelic monodactyly
- ORPHA:329319Thrombocythemia with distal limb defects
- ORPHA:3320Thrombocytopenia-absent radius syndrome
- ORPHA:3329Tibial aplasia-ectrodactyly syndrome
- ORPHA:988Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
- ORPHA:2249Ulna hypoplasia-intellectual disability syndrome
- ORPHA:3138Ulnar-mammary 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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/404574
- This record as JSON: /data/d/404574.json