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Start free with EleplanEndosteal hyperostosis, Worth type
ORPHA:2790Malformation syndrome
Also called Autosomal dominant osteosclerosis, Worth type · Worth syndrome
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adolescent
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
7These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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