Metaphyseal chondrodysplasia, Rosenberg type
historical
Synonyms: Rosenberg-Lohr syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent
- Status
- historical
Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metaphyseal chondrodysplasia, Rosenberg type | Rosenberg-Lohr syndrome |
| fr | Chondrodysplasie métaphysaire type Rosenberg | Syndrome de Rosenberg-Löhr |
| de | Chondrodysplasie, metaphysäre, Typ Rosenberg | Rosenberg-Lohr-Syndrom |
| es | Condrodisplasia metafisaria tipo Rosenberg | Síndrome de Rosenberg-Lohr |
| it | Condrodisplasia metafisaria tipo Rosenberg | Sindrome di Rosenberg-Lohr |
| nl | Metafysaire chondrodysplasie, Rosenberg-type | Syndroom van Rosenberg-Lohr |
| pt | Condrodisplasia metafisária, tipo Rosenberg | Síndrome Rosenberg-Lohr |
| pl | Zespół dysplazji przynasadowej kości łokciowej | Zespół Rosenberga i Lohra · Chondodysplazja przynasadowa typu Rosenberga |
| cs | Syndrom ulnární metafyzární dysplázie | Rosenbergův-Lohrův syndrom · Rosenberg-Lohrův syndrom |
| uk | Метафізарна хондродисплазія, тип Розенберга | Синдром Розенберга-Лора |
| zh | 尺骨干骺端发育不良综合征 | Rosenberg-Lohr综合征 |
| tr | Ulna metafizeal displazi sendromu | Rosenberg-Lohr sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 191420 | E | validated | |
| ICD-10 | Q78.5 | NTBT | attributed | validated |
| ICD-11 | LD24.7 | NTBT | index | validated |
| MONDO | 0008619 | E | validated | |
| MeSH | C536935 | E | validated | |
| UMLS | C1860615 | E | validated | |
| GARD | 4740 | 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:93430Multiple metaphyseal 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 3732330[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3732330[PMID] |
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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0002750 | Delayed skeletal maturation | |
| Frequent (79-30%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001608 | Abnormality of the voice | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000691 | Microdontia | |
| HP:0000787 | Nephrolithiasis | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1837
- This record as JSON: /data/d/1837.json