ORPHA:1118
Fibular aplasia-ectrodactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fibular aplasia-ectrodactyly syndrome | |
| fr | Syndrome d'aplasie du péroné-ectrodactylie | |
| de | Fibula-Aplasie-Ektrodaktylie-Syndrom | |
| es | Síndrome de aplasia de peroné-ectrodactilia | |
| it | Sindrome da aplasia del perone-ectrodattilia | |
| nl | Fibulaire aplasie - ectrodactylie-syndroom | |
| pt | Síndrome de aplasia da fíbula-ectrodactilia | |
| pl | Aplazja kości strzałkowej - ektrodaktylia | |
| cs | Syndrom zahrnující aplázii fibuly a ektrodaktylii | |
| uk | Синдром фібулярної аплазії-ектродактилії | |
| zh | 腓骨发育不良-缺指(趾)畸形综合征 | |
| tr | Fibular aplazi-ektrodaktili sendrom |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113310 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD26.0 | NTBT | index | validated |
| MONDO | 0007225 | E | validated | |
| MeSH | C537930 | E | validated | |
| UMLS | C4303759 | E | validated | |
| GARD | 2331 | 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 (2):
- ORPHA:294957Dysostosis with combined reduction defects of upper and lower limbs
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:498477Ectrodactyly with and without other manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 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.
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HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001622 | Premature birth | |
| Frequent (79-30%) | ||
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0006492 | Aplasia/Hypoplasia of the fibula | |
| HP:0001171 | Split hand | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1118
- This record as JSON: /data/d/1118.json