Brachydactylous dwarfism, Mseleni type
Synonyms: Mseleni joint disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- active
A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu-Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactylous dwarfism, Mseleni type | Mseleni joint disease |
| fr | Syndrome de nanisme-brachydactylie type Mseleni | Maladie articulaire type Mseleni |
| de | Kleinwuchs mit Brachydaktylie vom Typ Mseleni | Mselenische Gelenkkrankheit |
| es | Talla baja significativa con braquidactilia tipo Mseleni | Enanismo con braquidactilia tipo Mseleni · Enfermedad articular de Mseleni |
| it | Nanismo - brachidattilia, tipo Mseleni | Malattia articolare di Mseleni |
| nl | Brachydactyleuze dwerggroei, Mseleni-type | Gewrichtsziekte van Mseleni |
| pt | Nanismo com braquidactilia, tipo Mseleni | Doença articular de Mseleni |
| pl | Karłowatość z krótkimi palcami typu Mseleni | Choroba stawów Mseleni |
| cs | Brachydaktylický nanismus, typ Mseleni | Nemoc Mseleni |
| uk | Брахідактилічна карликовість, тип Мселені | Хвороба суглобів Мселені |
| zh | 短肢侏儒症，Mseleni型 | Mseleni 关节病 |
| tr | Brakidaktili cücelik, Mseleni tipi | Mseleni eklem hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613342 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0013232 | E | validated | |
| MeSH | C537086 | E | validated | |
| UMLS | C2931420 | E | validated | |
| GARD | 960 | 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:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
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
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
19 annotations · validated 2021-07-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003028 | Abnormality of the ankles | |
| HP:0003368 | Abnormality of the femoral head | |
| HP:0002829 | Arthralgia | |
| HP:0005872 | Brachytelomesophalangy | |
| HP:0008843 | Hip osteoarthritis | |
| HP:0005086 | Knee osteoarthritis | |
| HP:0002654 | Multiple epiphyseal dysplasia | |
| HP:0000938 | Osteopenia | |
| HP:0000926 | Platyspondyly | |
| HP:0003510 | Severe short stature | |
| HP:0001831 | Short toe | |
| Frequent (79-30%) | ||
| HP:0003019 | Abnormality of the wrist | |
| HP:0032153 | Joint subluxation | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0003940 | Osteoarthritis of the elbow | |
| HP:0009742 | Stiff shoulders | |
| Occasional (29-5%) | ||
| HP:0003179 | Protrusio acetabuli | |
| Excluded (0%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0012649 | Increased inflammatory response | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 20471895[PMID]_8362904[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2619
- This record as JSON: /data/d/2619.json