ORPHA:93323
Isolated fibular hemimelia
Synonyms: Isolated congenital longitudinal deficiency of the fibula · Isolated fibular deficiency · Isolated fibular longitudinal meromelia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal
- Status
- active
A rare congenital limb malformation characterized by complete or partial absence of the fibula bone combined with dysplasia and hypoplasia of the tibia and dysplasia, hypoplasia or aplasia of parts of the foot.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated fibular hemimelia | Isolated congenital longitudinal deficiency of the fibula · Isolated fibular deficiency · Isolated fibular longitudinal meromelia |
| fr | Hémimélie fibulaire isolée | Déficit isolé congénital longitudinal de la fibula · Déficit isolé congénital longitudinal du péroné · Hémimélie du péroné isolée · Hémimélie péronière isolée · Méromélie longitudinale de la fibula isolée · Méromélie longitudinale du péroné isolée · Méromélie longitudinale fibulaire isolée · Méromélie longitudinale péronière isolée |
| de | Hemimelie, fibuläre isolierte | Fibuladefekt, isolierter · Isolierte angeborene longitudinale Fehlbildung des Wadenbeins · Isolierte fibuläre longitudinale Meromelie |
| es | Hemimelia aislada del peroné | Deficiencia aislada del peroné · Deficiencia longitudinal congénita aislada del peroné · Meromelia longitudinal aislada del peroné |
| it | Emimelia fibulare isolata | Deficit isolato del perone · Deficit longitudinale congenito isolato del perone · Meromelia longitudinale isolata del perone |
| nl | Geïsoleerde hemimelie van fibula | Geïsoleerde congenitale longitudinale deficiëntie van fibula · Geïsoleerde fibulaire deficiëntie · Geïsoleerde fibulaire longitudinale meromelie · Geïsoleerde hemimelie van kuitbeen |
| pt | Hemimelia peronial isolada | Deficiência longitudinal do peróneo isolada congénita · Deficiência peronial isolada · Meromelia peronial longitudinal isolada |
| pl | Hemimelia strzałkowa | Podłużna meromelia strzałkowa · Wrodzone skrócenie podłużne kości strzałkowej |
| cs | Fibulární hemimelie | Vrozený longitudinální deficit fibuly · Fibulární longitudinální meromelie |
| uk | Ізольована фібулярна гемімелія | Ізольований вроджений поздовжній дефект малогомілкової кістки · Ізольована фібулярна недостатність · Ізольована фібулярна поздовжня меромелія |
| zh | 腓侧半肢畸形 | 先天性腓骨纵向缺失 |
| tr | Fibüler hemimeli | Fibular longitudinal meromeli · Fibulanın doğumsal longitudinal eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q72.6 | E | specific | validated |
| ICD-11 | LB9A.2 | E | specific | validated |
| MONDO | 0019672 | E | validated | |
| UMLS | C5925049 | E | validated | |
| GARD | 8659 | 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 (1):
- ORPHA:2130Non-syndromic hemimelia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:295081OBSOLETE: Fibular hemimelia, unilateral referred to · inactive
- ORPHA:295083OBSOLETE: Fibular hemimelia, bilateral referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.1033 / 100 000 | Worldwide | Value and class | Validated | 20498623[PMID]_27909861[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.1033 / 100 000 | Worldwide | Value and class | Validated | 20498623[PMID]_27909861[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.
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HPO phenotypes
47 annotations · validated 2019-06-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0001288 | Gait disturbance | |
| Frequent (79-30%) | ||
| HP:0040069 | Abnormal lower limb bone morphology | |
| HP:0006437 | Disproportionate prominence of the femoral medial condyle | |
| HP:0002857 | Genu valgum | |
| HP:0009826 | Limb undergrowth | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0005736 | Short tibia | |
| HP:0001762 | Talipes equinovarus | |
| HP:0002982 | Tibial bowing | |
| Occasional (29-5%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0003365 | Arthralgia of the hip | |
| HP:0002979 | Bowing of the legs | |
| HP:0003184 | Decreased hip abduction | |
| HP:0003038 | Fibular hypoplasia | |
| HP:0006101 | Finger syndactyly | |
| HP:0030043 | Hip subluxation | |
| HP:0031058 | Impairment of activities of daily living | |
| HP:0006460 | Increased laxity of ankles | |
| HP:0001382 | Joint hypermobility | |
| HP:0001387 | Joint stiffness | |
| HP:0045086 | Knee joint hypermobility | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0005085 | Limited knee flexion/extension | |
| HP:0012165 | Oligodactyly | |
| HP:0012531 | Pain | |
| HP:0030772 | Proximal femoral focal deficiency | |
| HP:0003097 | Short femur | |
| HP:0001831 | Short toe | |
| HP:0010219 | Structural foot deformity | |
| HP:0001772 | Talipes equinovalgus | |
| HP:0001770 | Toe syndactyly | |
| Very rare (<4-1%) | ||
| HP:0000593 | Abnormal anterior chamber morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000528 | Anophthalmia | |
| HP:0001363 | Craniosynostosis | |
| HP:0100257 | Ectrodactyly | |
| HP:0002990 | Fibular aplasia | |
| HP:0001849 | Foot oligodactyly | |
| HP:0003274 | Hypoplastic acetabulae | |
| HP:0001249 | Intellectual disability | |
| HP:0000110 | Renal dysplasia | |
| HP:0002414 | Spina bifida | |
| HP:0100656 | Thoracoabdominal wall defect | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 15754355[PMID]_15083119[PMID]_29744100[PMID]_30269159[PMID]_30875935[PMID]_27227952[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93323
- This record as JSON: /data/d/93323.json