autosomal dominant osteosclerosis, Worth type
Findings
No curated finding names autosomal dominant osteosclerosis, Worth type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.
Definition from the Mondo Disease Ontology (MONDO:0007764), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal cortical bone morphologyHPOHP:0003103
- Very frequent (80% to 99% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- Clavicular sclerosisHPOHP:0100923
- Very frequent (80% to 99% of cases)
- Craniofacial hyperostosisHPOHP:0004493
- Very frequent (80% to 99% of cases)
- Diaphyseal undertubulationHPOHP:0005019
- Very frequent (80% to 99% of cases)
- Generalized osteosclerosisHPOHP:0005789
- Very frequent (80% to 99% of cases)
Show the remaining 4
- Sensorineural hearing impairmentHPOHP:0000407
- Occasional (5% to 29% of cases)
- Abnormality of body heightHPOHP:0000002
- 0 of 10 reported patients
- HyperostosisMondoHP:0100774
- Increased bone mineral densityMondoHP:0011001
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LRP5HGNC:6697
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: autosomal dominant osteosclerosis, Worth type
- Also called
- endosteal hyperostosis, Worth typehyperostosis, endostealOstéosclérose autosomique dominante type WorthWorth syndromeWorth's syndrome