ORPHA:2790
Endosteal hyperostosis, Worth type
Also known as: Autosomal dominant osteosclerosis, Worth type · Worth syndrome
Publications
124
49.6th percentile
Trials
0
Interventional, condition-specific
Researchers
735
Distinct authors in sample
Gene link
LRP5
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary bone 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.
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:0007764
- OMIM:144750
- OMIM:607636
- UMLS:C0432273
Additional Mondo synonyms (4)
Ostéosclérose autosomique dominante type Worth · Worth's syndrome · endosteal hyperostosis, Worth type · hyperostosis, endosteal
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — LRP5
- LiteraturePresent
124 matched papers (40 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?
Yes — we know a specific gene responsible (LRP5).
GenCC classification: Strong.
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?
124
124 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
124 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).
40 in the last 10 years · high confidence · 49.6th percentile (publications denominator)
Phrase hits: 124 · MeSH hits: 0
Who's working on it?
735
Distinct author names in 124 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.
- 01Mumm S5 papers · 2023
Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA.
Papers in Europe PMC - 02Whyte MP5 papers · 2023
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63131, USA. mwhyte@shrinenet.org
Papers in Europe PMC - 03Robling AG4 papers · 2019
Department of Anatomy & Cell Biology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Papers in Europe PMC - 04Van Hul W4 papers · 2011Papers in Europe PMC
- 05Behrens J3 papers · 2015
Nikolaus-Fiebiger-Center for Molecular Medicine, University Erlangen-Nuremberg , Erlangen, Germany.
Papers in Europe PMC - 06Bullock WA3 papers · 2019
Department of Anatomy & Cell Biology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Papers in Europe PMC - 07Cormier-Daire V3 papers · 2023
Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.
Papers in Europe PMC - 08de Vernejoul MC3 papers · 2010
INSERM U606 and University Paris 7, Rheumatology Department, Hospital Lariboisière, Assistance Publique Hôpitaux de Paris, 2 rue Ambroise Paré, 75010 Paris, France. christine.devernejoul@lrb.aphp.fr
Papers in Europe PMC - 09Grill F3 papers · 2012Papers in Europe PMC
- 10Klaushofer K3 papers · 2012Papers 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. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 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.
high 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.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Endosteal hyperostosis, Worth type" OR "Autosomal dominant osteosclerosis, Worth type" OR "Worth syndrome" OR "Ostéosclérose autosomique dominante type Worth" OR "Worth's syndrome" OR "hyperostosis, endosteal"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Endosteal hyperostosis, Worth type" OR "Autosomal dominant osteosclerosis, Worth type" OR "Worth syndrome" OR "Ostéosclérose autosomique dominante type Worth" OR "Worth's syndrome" OR "hyperostosis, endosteal" OR "LRP5"
Recall-expansion terms: LRP5
Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hyperostosis"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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
Ingested 2026-07-26T21:12:37.133Z