hyperostosis corticalis generalisata
Findings
No curated finding names hyperostosis corticalis generalisata yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.
Definition from the Mondo Disease Ontology (MONDO:0009395), read 2026-09-29. CC BY 4.0.
Features
12 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 clavicle morphologyHPOHP:0000889
- Very frequent (80% to 99% of cases)
- Abnormal cortical bone morphologyHPOHP:0003103
- Very frequent (80% to 99% of cases)
- Cranial hyperostosisHPOHP:0004437
- 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)
- Mandibular prognathiaHPOHP:0000303
- Very frequent (80% to 99% of cases)
Genes
2 genes
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.
Where it sits
- A kind of
Other names
4 names
Resolves to: hyperostosis corticalis generalisata
- Also called
- endosteal hyperostosishyperphosphatasemia tardaVan Buchem diseasevan Buchem disease type 1