ORPHA:294959
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy | |
| fr | Syndrome avec duplication des membres, polydactylie, syndactylie et/ou hyperphalangie | |
| de | Syndrome mit with Extremitäten-Verdoppelung, Polydaktylie, Syndaktylie und/oder Triphalangismus | |
| es | Síndromes con duplicación de extremidades, polidactilia, sindactilia y/o trifalangismo | |
| it | Sindrome con duplicazione degli arti, polidattilia, sindattilia e/o iperfalangismo | |
| nl | Syndroom met ledemaatduplicatie, polydactylie, syndactylie en/of hyperfalangie | |
| pt | Síndromes com duplicação dos membros, polidactilia, sindactilia e/ou trifalangismo | |
| pl | Zespół z duplikacją kończyny, polidaktylią, syndaktylią, i(lub) hiperfalangią | |
| cs | Syndromy se zdvojením končetin, polydaktylií, syndaktylií a/nebo hyperfalangií | |
| uk | Синдром з подвоєнням кінцівок, полідактилією, синдактилією та/або гіперфалангією | |
| zh | 肢体重复、多指、并指和/或多指畸形综合征 | |
| tr | Ekstremite duplikasyonu, polidaktili, sindaktili ve / veya hiperfalanji ile seyreden sendrom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD26.2 | E | specific | validated |
| MONDO | 17434 | E | validated | |
| UMLS | C5681001 | 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 (4):
- ORPHA:404571Dysostosis of genetic origin with limb anomaly as a major feature
rare genetic diseases - ORPHA:364568Dysostosis with limb anomaly as a major feature
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:404577Genetic syndrome with limb malformations as a major feature
rare genetic diseases - ORPHA:109009Syndrome with limb malformations as a major feature
rare developmental anomalies during embryogenesis
Children (47):
- ORPHA:3328Absent tibia-polydactyly-arachnoid cyst syndrome
- ORPHA:36Acrocallosal syndrome
- ORPHA:85203Acropectoral syndrome
- ORPHA:957Acropectorovertebral dysplasia
- ORPHA:1113Aphalangy-syndactyly-microcephaly syndrome
- ORPHA:476119Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
- ORPHA:567502B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
- ORPHA:93409Brachydactyly-syndactyly, Zhao type
- ORPHA:3258Cenani-Lenz syndrome
- ORPHA:726700Chitayat syndrome
- ORPHA:1527Craniosynostosis, Philadelphia type
- ORPHA:2935Crossed polysyndactyly
- ORPHA:1566Dandy-Walker malformation-postaxial polydactyly syndrome
- ORPHA:1892Ectrodactyly-polydactyly syndrome
- ORPHA:3172Eyebrow duplication-syndactyly syndrome
- ORPHA:2492FATCO syndrome
- ORPHA:1757Fibular dimelia-diplopodia syndrome
- ORPHA:3255Filippi syndrome
- ORPHA:369979Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
- ORPHA:2854Fuhrmann syndrome
- ORPHA:1986Gollop-Wolfgang complex
- ORPHA:380Greig cephalopolysyndactyly syndrome
- ORPHA:658805Greig cephalopolysyndactyly-contiguous gene syndrome
- ORPHA:2957Guttmacher syndrome
- ORPHA:2110Hallux varus-preaxial polysyndactyly syndrome
- ORPHA:2363Lacrimoauriculodentodigital syndrome
- ORPHA:2378Laurin-Sandrow syndrome
- ORPHA:564Meckel syndrome
- ORPHA:3004Mirror polydactyly-vertebral segmentation-limbs defects syndrome
- ORPHA:2920Oliver syndrome
- ORPHA:140997Orofaciodigital syndrome
- ORPHA:672Pallister-Hall syndrome
- ORPHA:1388Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome
- ORPHA:726703Polydactyly-macrocephaly syndrome
- ORPHA:2917Polydactyly-myopia syndrome
- ORPHA:420584Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
- ORPHA:1003Scalp defects-postaxial polydactyly syndrome
- ORPHA:3168Sillence syndrome
- ORPHA:818Smith-Lemli-Opitz syndrome
- ORPHA:71271Split hand-split foot-deafness syndrome
- ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome
- ORPHA:3246Symphalangism with multiple anomalies of hands and feet
- ORPHA:357332Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
- ORPHA:3259Syndactyly-polydactyly-ear lobe syndrome
- ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndrome
- ORPHA:857Townes-Brocks syndrome
- ORPHA:2947Triphalangeal thumbs-brachyectrodactyly syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:3133OBSOLETE: Say-Field-Coldwell syndrome referred to · inactive
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/294959
- This record as JSON: /data/d/294959.json