Carpotarsal osteochondromatosis
historical
Synonyms: Maroteaux-Le Merrer-Bensahel syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- historical
A rare primary bone dysplasia with disorganized development of skeletal components characterized by a dysplasia epiphysealis hemimelica, intracapsular or periarticular chondromas of the knee, extraskeletal chondromas, and osteochondromas in various combinations. Patients may present with deformity, swelling, restricted mobility and limited flexion or locking of the affected area. There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carpotarsal osteochondromatosis | Maroteaux-Le Merrer-Bensahel syndrome |
| fr | Ostéochondromatose carpo-tarsienne | Syndrome de Maroteaux-Le Merrer-Bensahel |
| de | Osteochondromatose, karpotarsale | Maroteaux-le-Merrer-Bensahel-Syndrom |
| es | Osteocondromatosis carpotarsiana | Síndrome de Maroteaux-Le Merrer-Bensahel |
| it | Osteocondromatosi carpotarsale | Sindrome di Maroteaux-Le Merrer-Bensahel |
| nl | Carpotarsale osteochondromatose | Syndroom van Maroteaux-Le Merrer-Bensahel |
| pt | Osteocondromatose carpo-társica | Síndrome Maroteaux-le Merrer-Bensahel |
| pl | Osteochondromatoza nadgarstkowo-stępowa | Zespół Maroteaux, Le Merrera i Bensahela |
| cs | Karpotarzální osteochondromatóza | Maroteauxův-Le Merrerové-Bensahelův syndrom · Maroteaux-Le Merrer-Bensahelův syndrom |
| uk | Карпотарзальний остеохондроматоз | Синдром Марото-Ле Меррера-Бенсахеля |
| zh | 腕跗骨骨软骨瘤病 | Maroteaux-Le Merrer-Bensahel综合征 |
| tr | Karpotarsal osteokondromatoz | Maroteaux-Le Merrer-Bensahel sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 127820 | E | validated | |
| ICD-10 | Q78.4 | NTBT | attributed | validated |
| ICD-11 | LD24.2Y | NTBT | index | validated |
| MONDO | 0007490 | E | validated | |
| MeSH | C565076 | E | validated | |
| UMLS | C1851956 | E | validated | |
| GARD | 1128 | 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:93450Primary bone dysplasia with disorganized development of skeletal components
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 | <1 / 1 000 000 | — | Europe | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2767
- This record as JSON: /data/d/2767.json