ORPHA:294963
Popliteal pterygium syndrome
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- 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 | Popliteal pterygium syndrome | |
| fr | Syndrome des ptérygiums poplités | |
| de | Popliteales Pterygium-Syndrom | |
| es | Síndrome de pterigium poplíteo | |
| it | Sindrome degli pterigi popliteali | |
| nl | Popliteaal pterygium-syndroom | |
| pt | Síndrome pterígeo poplíteo | |
| pl | Zespół płetwistości podkolanowych | |
| cs | Syndrom popliteálních pterygií | |
| uk | Синдром підколінного птеригіуму | |
| zh | 腘窝翼状胬肉综合征 | |
| tr | Popliteal piterjiyum sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017435 | E | validated | |
| MONDO | 17435 | E | validated | |
| MeSH | C562509 | E | validated | |
| UMLS | C0265259 | E | validated | |
| MedDRA | 10079892 | 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 (5):
- ORPHA:109007Arthrogryposis syndrome
rare developmental anomalies during embryogenesis - ORPHA:723416Genetic arthrogryposis syndrome
rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:98565Syndromic ankyloblepharon filiforme adnatum
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Europe | Value and class | Validated | 2352260[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.
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/294963
- This record as JSON: /data/d/294963.json