Metaphyseal dysplasia, Braun-Tinschert type
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Metaphyseal dysplasia, Braun-Tinschert type is characterised by metaphyseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metaphyseal dysplasia, Braun-Tinschert type | |
| fr | Dysplasie métaphysaire type Braun-Tinschert | |
| de | Dysplasie, metaphysäre, Typ Braun-Tinschert | |
| es | Displasia metafisaria tipo Braun-Tinschert | |
| it | Displasia metafisaria, tipo Braun-Tinschert | |
| nl | Metafysaire dysplasie, Braun-Tinschert-type | |
| pt | Displasia metafisária, tipo Braun-Tinschert | |
| pl | Dysplazja przynasadowa, typ Brauna i Tinscherta | |
| cs | Metafyzární dysplázie, Braunův-Tinschertův typ | Metafyzární dysplázie, Braun-Tinschertův typ |
| uk | Метафізарна дисплазія, тип Брауна-Тіншерта | |
| zh | 干骺端发育不全症，Braun-Tinschert型 | |
| tr | Metafizer displazi, Braun-Tinschert tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605946 | E | validated | |
| ICD-10 | Q78.5 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0011620 | E | validated | |
| MeSH | C565271 | E | validated | |
| UMLS | C1853825 | 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:93444Primary bone dysplasia with increased bone density
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
31 annotations · validated 2021-10-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0010540 | Advanced pneumatization of cranial sinuses | |
| HP:0010498 | Bipartite patella | |
| HP:0008804 | Broad femoral head | |
| HP:0006429 | Broad femoral neck | |
| HP:0005622 | Broad long bones | |
| HP:0004026 | Broad radial metaphysis | |
| HP:0006413 | Broad tibial metaphyses | |
| HP:0003871 | Deformed humerus | |
| HP:0010639 | Elevated alkaline phosphatase of bone origin | |
| HP:0003986 | Exostoses of the radius | |
| HP:0003985 | Exostoses of the ulna | |
| HP:0010502 | Fibular bowing | |
| HP:0002834 | Flared femoral metaphysis | |
| HP:0003874 | Humerus varus | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0011001 | Increased bone mineral density | |
| HP:0032208 | Increased urinary type 1 collagen N-terminal telopeptide level | |
| HP:0002986 | Radial bowing | |
| HP:0100670 | Rough bone trabeculation | |
| HP:0100916 | Sclerosis of middle finger phalanx | |
| HP:0100917 | Sclerosis of proximal finger phalanx | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0002753 | Thin bony cortex | |
| HP:0002982 | Tibial bowing | |
| HP:0003031 | Ulnar bowing | |
| HP:0003856 | Upper limb metaphyseal widening | |
| HP:0006387 | Wide distal femoral metaphysis | |
| HP:0008783 | Wide proximal femoral metaphysis | |
| Occasional (29-5%) | ||
| HP:0000938 | Osteopenia | |
| HP:0006323 | Premature loss of primary teeth | |
| HP:0002650 | Scoliosis | |
Annotation source: 11343343[PMID]_16691581[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85188
- This record as JSON: /data/d/85188.json