Fibular dimelia-diplopodia syndrome
Synonyms: Leg duplication-mirror foot syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fibular dimelia-diplopodia syndrome | Leg duplication-mirror foot syndrome |
| fr | Syndrome de dimélie fibulaire-diplopodie | Duplication de la jambe et du pied en miroir |
| de | Fibuläre Dimelie-Diplopodie-Syndrom | Beinverdoppelung - Fußverdoppelung · Spiegelbildliche Polydaktylie - Duplikation des Fußes |
| es | Síndrome de dimelia-diplopia fibular | |
| it | Sindrome da dimelia peroneale-diplopodia | Duplicazione a specchio della gamba e del piede |
| nl | Fibulaire dimelie - diplopodie-syndroom | Beenduplicatie - spiegelvoet-syndroom |
| pt | Síndrome de dimelia peroniana-diplopodia | Duplicação da perna-pé em espelho |
| pl | Wrodzone zdwojenie kości strzałkowej - diplopodia | Zdwojenie nogi - lustrzane odbicie stopy |
| cs | Syndrom zahrnující fibulární dimelii a diplopodii | Syndrom zahrnující duplikaci nohy a zrcadlové chodidlo |
| uk | Синдром фіброзної димелії-диплоподії | Синдром подвоєння ніг - дзеркальна стопа |
| zh | 腓骨重复畸形-重复足综合征 | 腓骨重复畸形-重复足综合征 |
| tr | Fibular dimelia-diplopodia sendromu | Bacak duplikasyonu-ayna ayak sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| MONDO | 0015773 | E | validated | |
| UMLS | C4303758 | 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 (1):
- ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009556 | Absent tibia | |
| Frequent (79-30%) | ||
| HP:0000271 | Abnormality of the face | |
| HP:0030736 | Sacrococcygeal teratoma | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1757
- This record as JSON: /data/d/1757.json