Familial articular hypermobility syndrome
Synonyms: Familial joint instability syndrome · Familial joint laxity · Joint instability syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare genetic disease characterized by generalized joint laxity leading to recurrent dislocation of major joints, such as the hip (often with congenital hip dislocation), shoulder, elbow, or patella. Patients often experience muscle and joint pain (sometimes with effusion) and may develop degenerative joint changes at a relatively early age. Skin abnormalities are absent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial articular hypermobility syndrome | Familial joint instability syndrome · Familial joint laxity · Joint instability syndrome |
| fr | Syndrome d'hypermobilité articulaire familiale | Hyperlaxité articulaire familiale · Syndrome d'instabilité articulaire · Syndrome d'instabilité articulaire familiale |
| de | Gelenkhypermobilitäts-Syndrom, familiäres | Gelenkinstabilitäts-Syndrom, familiäres · Gelenklaxität, familiäre |
| es | Síndrome de hipermovilidad articular familiar | Laxitud articular familiar · Síndrome de inestabilidad articular · Síndrome de inestabilidad articular familiar |
| it | Sindrome familiare da ipermobilità articolare | EDS 11 · Lassità articolare familiare · Sindrome da instabilità articolare · Sindrome familiare da instabilità articolare |
| nl | Familiaal gewrichtshypermobiliteitssyndroom | Familiaal gewrichtsinstabiliteitssyndroom · Familiale gewrichtslaxiteit · Gewrichtsinstabiliteitssyndroom |
| pt | Síndrome de hipermobilidade articular familiar | EDS XI · Hipermobilidade articular familiar · Síndrome Ehlers-Danlos tipo 11 · Síndrome de instabilidade articular familiar |
| pl | Zespół Ehlersa i Danlosa typu 11 | EDS XI · Rodzinna luźność stawów · Zespół niestabilności stawów · Zespół rodzinnej niestabilności stawów |
| cs | Ehlersův-Danlosův syndrom, typ 11 | EDS XI · Syndrom familiární nestability kloubů · Familiární laxita kloubů · Syndrom nestability kloubů · Ehlers-Danlosův syndrom, typ 11 |
| uk | Сімейний синдром гіпермобільності суглобів | Сімейний синдром нестабільності суглобів · Сімейна розхитаність суглобів · Синдром нестабільності суглобів |
| zh | 家族遗传性关节运动过度综合征 | 家族性关节不稳定综合征 |
| tr | ailesel artiküler hipermobilite sendromu | Ailesel eklem gevşekliği · Eklem instabilitesi sendromu · Ailesel eklem instabilitesi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 147900 | E | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| ICD-11 | LD28.Y | NTBT | index | validated |
| MONDO | 0007842 | E | validated | |
| MeSH | C535884 | E | validated | |
| UMLS | C0268349 | E | validated | |
| GARD | 3054 | 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 (5):
- ORPHA:228215Genetic dermis elastic tissue disorder
rare genetic diseases; rare skin diseases - ORPHA:139030Rare developmental defect with connective tissue involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:271870Rare genetic systemic or rheumatologic disease
rare genetic diseases - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001374 | Congenital hip dislocation | |
| HP:0001382 | Joint hypermobility | |
| HP:0002999 | Patellar dislocation | |
| Frequent (79-30%) | ||
| HP:0002815 | Abnormality of the knee | |
| Occasional (29-5%) | ||
| HP:0002823 | Abnormality of femur morphology | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0000023 | Inguinal hernia | |
| HP:0003834 | Shoulder dislocation | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2295
- This record as JSON: /data/d/2295.json