Isolated femoral agenesis/hypoplasia
Synonyms: CFD · CSF · Isolated congenital femoral deficiency · Isolated congenital short femur · Isolated femoral intercalary meromelia
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated femoral agenesis/hypoplasia | CFD · CSF · Isolated congenital femoral deficiency · Isolated congenital short femur · Isolated femoral intercalary meromelia |
| fr | Agénésie/hypoplasie du fémur isolée | Agénésie/hypoplasie fémorale isolée · Déficience fémorale congénitale isolée · Méromélie intercalaire fémorale isolée |
| de | Femuragenesie/-hypoplasie, isolierte | CSF · Isolierte femorale interkalare Meromelie · Isolierter angeborener Oberschenkeldefekt · Isolierter kongenitaler kurzer Femur |
| es | Agenesia/hipoplasia femoral aislada | Deficiencia femoral congénita aislada · Fémur corto congénito aislado · Meromelia intercalar femoral aislada |
| it | Agenesia/ipoplasia isolata del femore | Accorciamento isolato congenito del femore · CFD · CSF · Deficit isolato congenito del femore · Femore corto congenito · Meromelia intercalare femorale · Meromelia intercalare isolata del femore |
| nl | Geïsoleerde agenesie/hypoplasie van femur | CFD · CSF · Geïsoleerde congenitale femorale deficiëntie · Geïsoleerde congenitale korte femur · Geïsoleerde femorale agenesie/hypoplasie · Geïsoleerde femorale intercalaire meromelie |
| pt | Agenesia/hipoplasia femural isolada | CFD · CSF · Deficiência femoral isolada congénita · Fémur curto isolado congénito · Meromelia femoral intercalar isolada |
| pl | Agnezja/hipoplazja kości udowej | Meromelia kości udowej · Wrodzone skrócenie kości udowej · Izolowana agenezja/hipoplazja kości udowej |
| cs | Femorální ageneze/hypoplázie | Vrozené zkrácení femuru · Femorální interkalární meromelie |
| uk | Ізольована агенезія/гіпоплазія стегнової кістки | CFD · CSF · Ізольована вроджена вада стегнової кістки · Ізольована вроджена коротка стегнова кістка · Ізольована стегнова інтеркалярна меромелія |
| zh | 股骨缺如/发育不全 | 股骨中间残肢 |
| tr | Femoral agenez / hipoplazi | Doğumsal kısa femur · Femoral interkalar meromeli |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q72.4 | E | specific | validated |
| ICD-11 | LB9A.8 | E | specific | validated |
| MONDO | 0016032 | E | validated | |
| UMLS | C5889736 | E | validated | |
| GARD | 1503 | 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:294927Non-syndromic intercalary limb defects
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:295065OBSOLETE: Femoral agenesis/hypoplasia, unilateral referred to · inactive
- ORPHA:295067OBSOLETE: Femoral agenesis/hypoplasia, bilateral referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.6 / 100 000 | Worldwide | Value and class | Validated | 26408260[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.6 / 100 000 | Worldwide | Value and class | Validated | 26408260[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1987
- This record as JSON: /data/d/1987.json