Endosteal hyperostosis, Worth type
Synonyms: Autosomal dominant osteosclerosis, Worth type · Worth syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent
- Status
- active
A rare primary bone dysplasia characterized by increased and diffuse skeletal densification, particularly of the cranial vault and tubular long bones, that is not associated with an increased risk of fracture. Craniofacial anomalies usually develop during adolescence and include a prominent forehead, wide and deep mandibles, a flat nasal bridge, taurus palatinus and an increased gonial angle. Neurological complications are present in approximately one fifth of affected patients, usually in the form of entrapment neuropathies such as hearing loss, and are secondary to nerve tissue compression by hyperostotic bone, cerebellar disturbances due to a reduction in size of the posterior cranial fossa or tonsillar herniation, and chronic intracranial hypertension.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Endosteal hyperostosis, Worth type | Autosomal dominant osteosclerosis, Worth type · Worth syndrome |
| fr | Hyperostose endostéale type Worth | Ostéosclérose autosomique dominante type Worth · Syndrome de Worth |
| de | Endostale Hyperostose, Typ Worth | Osteosklerose, autosomal-dominante, Typ Worth · Worth-Syndrom |
| es | Hiperostosis endostal tipo Worth | Osteosclerosis autosómica dominante tipo Worth · Síndrome de Worth |
| it | Otosclerosi autosomica dominante, tipo Worth | Iperostosi endostale, tipo Worth · Sindrome di Worth |
| nl | Endostale hyperostose, Worth-type | Autosomaal dominante osteosclerose, Worth-type · Syndroom van Worth |
| pt | Osteosclerose autossómica dominante tipo Worth | Hiperostose endosteal, tipo Worth · Síndrome de Worth |
| pl | Autosomalna dominująca osteoskleroza typu Wortha | Hiperostoza endosteum, typu Wortha · Zespół Wortha |
| cs | Autozomálně dominantní osteoskleróza, Worthův typ | Endosteální hyperostóza, Worthův typ · Worthův syndrom |
| uk | Ендостальний гіперостоз, тип Ворта | Аутосомно-домінантний остеосклероз, тип Ворта · Синдром Ворта |
| zh | 骨内膜骨质增生，Worth型 | 常染色体显性遗传性骨硬化，Worth型 |
| tr | Endosteal hiperostoz, Worth tipi | Worth sendromu · Otozomal dominant osteoskleroz, Worth tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 144750 | E | validated | |
| ICD-10 | Q78.2 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0007764 | E | validated | |
| MeSH | C536748 | E | validated | |
| UMLS | C0432273 | E | validated | |
| GARD | 390 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LRP5 | Disease-causing germline mutation(s) in | Assessed | HGNC:6697 | ENSG00000162337 | 603506 | 11q13.2 | LDL receptor related protein 5 | 12579474[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 families | Worldwide | Family(ies) | Validated | 8030669[PMID]_18031587 [PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8030669[PMID]_18031587 [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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0100923 | Clavicular sclerosis | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0005019 | Diaphyseal thickening | |
| HP:0005789 | Generalized osteosclerosis | |
| HP:0100789 | Torus palatinus | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0100861 | Sclerotic vertebral body | |
| Occasional (29-5%) | ||
| HP:0010628 | Facial palsy | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000639 | Nystagmus | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2790
- This record as JSON: /data/d/2790.json