Femur-fibula-ulna complex
Synonyms: FFU complex · Femur-fibula-ulna dysostosis · Femur-fibula-ulna syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Femur-fibula-ulna complex | FFU complex · Femur-fibula-ulna dysostosis · Femur-fibula-ulna syndrome |
| fr | Complexe fémoro-péronéo-cubital | Complexe FFU · Dysostose fémoro-péronéo-cubitale · Syndrome fémoro-péronéo-cubital |
| de | Femur-Fibula-Ulna-Komplex | FFU-Komplex · Femur-Fibula-Ulna-Dysostose · Femur-Fibula-Ulna-Syndrom |
| es | Complejo fémur-peroné-cúbito | Complejo FFU · Complejo fémur-fíbula-ulna · Disostosis fémur-peroné-cúbito · Síndrome fémur-fíbula-ulna · Síndrome fémur-peroné-cúbito |
| it | Complesso femore-fibula-ulna | Complesso FFU · Disostosi femore-fibula-ulna · Sindrome femore-fibula-ulna |
| nl | Femur-fibula-ulna-complex | Dysostose van femur-fibula-ulna · FFU-complex · Femur-fibula-ulna-syndroom |
| pt | Complexo fémur-fíbula-ulna | Complexo FFU · Disostose fémur-fíbula-ulna · Síndrome fémur-fíbula-ulna |
| pl | Kompleks udowo-strzałkowo-łokciowy | PFFD · Kompleks FFU · Zespół udowo - strzałkowo - łokciowy · Dyzostoza udowo - strzałkowo - łokciowa |
| cs | Komplex femur-fibula-ulna | FFU komplex · Dysostóza femur-fibula-ulna · Syndrom femur-fibula-ulna · Fokální femorální deficit |
| uk | Стегново-гомілково-ліктьовий комплекс | Дизостоз стегнової та малогомілкової кісток · Синдром стегнової-великогомілкової кістки · Комплекс FFU |
| zh | 股骨腓骨尺骨复合体 | 股骨腓骨尺骨发育障碍 |
| tr | Femur-fibula-ulna kompleksi | PFFD · FFU kompleksi · Femur-fibula-ulna sendromu · Femur-fibula-ulna dizostoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 228200 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| ICD-11 | LD26.0 | NTBT | index | validated |
| MONDO | 0009221 | E | validated | |
| MeSH | C537918 | E | validated | |
| UMLS | C1856790 | E | validated | |
| GARD | 2286 | E | validated | |
| MedDRA | 10068448 | 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:294957Dysostosis with combined reduction defects of upper and lower limbs
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 |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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
14 annotations · validated 2024-10-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0006101 | Finger syndactyly | |
| HP:0003041 | Humeroradial synostosis | |
| HP:0002983 | Micromelia | |
| HP:0005792 | Short humerus | |
| HP:0001171 | Split hand | |
| Frequent (79-30%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0009812 | Amelia involving the upper limbs | |
| HP:0100560 | Upper limb asymmetry | |
| Occasional (29-5%) | ||
| HP:0009828 | Peromelia | |
| HP:0004322 | Short stature | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 8500790[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2019
- This record as JSON: /data/d/2019.json