Multiple pterygium syndrome
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
A group of rare genetic disorders characterized by the presence of joint contractures and multiple soft tissue webs (pterygia) across the neck and various joints, as well as typical facial appearance and a variety of other congenital anomalies. Both lethal (lethal and X-linked lethal multiple pterygium syndrome) and non-lethal (autosomal recessive and autosomal dominant multiple pterygium syndrome) forms occur.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple pterygium syndrome | |
| fr | Syndrome des ptérygium multiples | |
| de | Multiples Pterygium-Syndrom | |
| es | Síndrome de pterigium múltiple | |
| it | Sindrome degli pterigi multipli | |
| nl | Meervoudig pterygium-syndroom | |
| pt | Síndrome de pterígio múltiplo | |
| pl | Zespół mnogich płetwistości | |
| cs | Syndrom mnohočetných pterygií | |
| uk | Синдром множинних птеригіумів | |
| zh | 多发性翼状胬肉综合征 | |
| tr | Çoklu piterjiyum sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD26.40 | E | specific | validated |
| MONDO | 0017415 | E | validated | |
| MONDO | 17415 | E | validated | |
| MeSH | C537377 | E | validated | |
| UMLS | C5848053 | 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 (2):
- ORPHA:109007Arthrogryposis syndrome
rare developmental anomalies during embryogenesis - ORPHA:723416Genetic arthrogryposis syndrome
rare genetic diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/294060
- This record as JSON: /data/d/294060.json