ORPHA:3416
Hyperostosis corticalis generalisata
Also known as: Hyperphosphatasemia tarda · Van Buchem disease
Publications
789
Trials
0
Interventional, condition-specific
Researchers
1,141
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
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.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009395
- OMIM:239100
- UMLS:C0432272
- NCIT:C131812
Additional Mondo synonyms (5)
endosteal hyperostosis · hyperostosis corticalis generalisata · hyperphosphatasemia tarda · van Buchem disease · van Buchem disease type 1
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
789 matched papers (359 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 2 for broader category hyperostosis
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
789
789 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
789 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
359 in the last 10 years · low confidence
Phrase hits: 789 · MeSH hits: 0
Who's working on it?
1,141
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Papapoulos SE10 papers · 2025
Center for Bone Quality, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands. m.v.iken@lumc.nl.
Papers in Europe PMC - 02Van Hul W9 papers · 2023
Center of Medical Genetics, University of Antwerp and University Hospital Antwerp, 2650 Antwerp, Belgium.
Papers in Europe PMC - 03Appelman-Dijkstra NM6 papers · 2025
Center for Bone Quality, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
Papers in Europe PMC - 04Liu X5 papers · 2025
Department of Oral and Maxillofacial Surgery, Stomatological Hospital, Southern Medical University, Guangzhou, China.
Papers in Europe PMC - 05Dikkers FG4 papers · 2013Papers in Europe PMC
- 06Kneissel M4 papers · 2023
Musculoskeletal Disease Area, Novartis Institutes for BioMedical Research, Basel, Switzerland.
Papers in Europe PMC - 07van Lierop AH4 papers · 2017
Department of Endocrinology and Metabolic Diseases and Leiden Center for Bone Quality, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Papers in Europe PMC - 08Wang Y4 papers · 2026
Department of Medicine Laboratory, The Second People's Hospital of Lianyungang, Lianyungang, Jiangsu, China.
Papers in Europe PMC - 09Balemans W3 papers · 2009Papers in Europe PMC
- 10Bellido T3 papers · 2024
Department of Physiology & Biophysics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 2 trials are registered for hyperostosis, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
2 interventional trials matched hyperostosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: hyperostosis
2
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Hyperostosis corticalis generalisata" OR "Hyperphosphatasemia tarda" OR "Van Buchem disease" OR "endosteal hyperostosis" OR "van Buchem disease type 1"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hyperostosis corticalis generalisata" OR "Hyperphosphatasemia tarda" OR "Van Buchem disease" OR "endosteal hyperostosis" OR "van Buchem disease type 1"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hyperostosis"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (789) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T23:08:43.028Z