Congenital patella dislocation
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital limb malformation characterized by permanent and manually irreducible lateral dislocation of the kneecap. It typically presents with flexion contracture of the knee, genu valgus, absent or dysplastic trochlear groove of the femur, external rotation of the tibia, and dysfunction of the extensor mechanism. The defect may be unilateral or bilateral and can occur as an isolated malformation, be associated with other malformations of the lower limb, or be part of a polymalformative syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital patella dislocation | |
| fr | Luxation congénitale de la rotule | |
| de | Patelladislokation, kongenitale | |
| es | Luxación congénita de la rótula | |
| it | Dislocazione congenita della rotula | |
| nl | Congenitale patellaluxatie | |
| pt | Luxação congénita da rótula | |
| pl | Wrodzone zwichnięcie rzepki | |
| cs | Vrozená dislokace čéšky | |
| uk | Вроджений вивих надколінка | |
| zh | 先天性髌骨脱位 | |
| tr | Doğumsal patella çıkığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q74.1 | NTBT | inclusion | validated |
| ICD-11 | LB94 | E | specific | validated |
| MONDO | 0017471 | E | validated | |
| MeSH | C538081 | E | validated | |
| UMLS | C0345360 | E | validated | |
| GARD | 9692 | 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:294951Congenital joint dislocations
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:295234OBSOLETE: Congenital patella dislocation, unilateral referred to · inactive
- ORPHA:295237OBSOLETE: Congenital patella dislocation, 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 |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 22287971[PMID]_19308591[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 22287971[PMID]_19308591[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
8 annotations · validated 2017-08-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002999 | Patellar dislocation | |
| Frequent (79-30%) | ||
| HP:0009787 | Aplasia/Hypoplasia of the quadriceps | |
| HP:0002829 | Arthralgia | |
| HP:0001288 | Gait disturbance | |
| HP:0002857 | Genu valgum | |
| HP:0006380 | Knee flexion contracture | |
| HP:0003066 | Limited knee extension | |
| HP:0003326 | Myalgia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 7379383[PMID]_20270374[PMID]_5651336[PMID]_22287971[PMID]_23963985[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/295036
- This record as JSON: /data/d/295036.json