Mixed sclerosing bone dystrophy with extra-skeletal manifestations
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mixed sclerosing bone dystrophy with extra-skeletal manifestations | |
| fr | Dystrophie osseuse sclérosante mixte avec manifestations extra-squelettiques | |
| de | Gemischte sklerosierende Knochendystrophie mit extraskelettalen Manifestationen | |
| es | Distrofia ósea esclerosante mixta con manifestaciones extraesqueléticas | |
| it | Distrofia ossea sclerosante mista con manifestazioni extrascheletriche | |
| nl | Gemengde scleroserende botdystrofie met extra-skeletale manifestaties | |
| pt | Distrofia óssea esclerosante mista com manifestações extra-esqueléticas | |
| pl | Mieszana stwardniająca dystrofia kości z objawami pozaszkieletowymi | |
| cs | Smíšená sklerozující kostní dystrofie s extraskeletálními manifestacemi | |
| uk | Змішана склерозуюча кісткова дистрофія з позаскелетними проявами | |
| zh | 混合性硬化性骨营养不良伴骨外表现 | |
| tr | İskelet dışı belirtiler ile seyreden karma sklerozan kemik distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | attributed | validated |
| MONDO | 0017930 | E | validated | |
| UMLS | C5191052 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 22821701[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22821701[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324364
- This record as JSON: /data/d/324364.json