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ORPHA:2790

Endosteal hyperostosis, Worth type

low confidenceDisorder

Also known as: Autosomal dominant osteosclerosis, Worth type · Worth syndrome

Publications

12,688

Trials

0

Interventional, condition-specific

Researchers

735

Distinct authors in sample

Gene link

LRP5

Strong

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — LRP5

  2. LiteraturePresent

    12,688 matched papers (8,176 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Sensorineural hearing impairment; Metatarsal diaphyseal endosteal sclerosis; Dental malocclusion) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

28

Associated phenotypes · MONDO:0007764

  • Sensorineural hearing impairment
  • Metatarsal diaphyseal endosteal sclerosis
  • Dental malocclusion
  • Abnormality of body height
  • Sclerotic vertebral body

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

12,688

12,688 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

12,688 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

8,176 in the last 10 years · low confidence

Phrase hits: 124 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Mumm 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
  2. 02
    Whyte 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
  3. 03
    Robling AG4 papers · 2019

    Department of Anatomy & Cell Biology, Indiana University School of Medicine, Indianapolis, Indiana, USA.

    Papers in Europe PMC
  4. 04
    Van Hul W4 papers · 2011
    Papers in Europe PMC
  5. 05
    Behrens J3 papers · 2015

    Nikolaus-Fiebiger-Center for Molecular Medicine, University Erlangen-Nuremberg , Erlangen, Germany.

    Papers in Europe PMC
  6. 06
    Bullock WA3 papers · 2019

    Department of Anatomy & Cell Biology, Indiana University School of Medicine, Indianapolis, Indiana, USA.

    Papers in Europe PMC
  7. 07
    Cormier-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
  8. 08
    de 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
  9. 09
    Grill F3 papers · 2012
    Papers in Europe PMC
  10. 10
    Klaushofer K3 papers · 2012
    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 15 · after dedupe 15 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 15 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (15)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Endosteal hyperostosis, Worth type — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("LRP5" OR "LRP5 syndrome" OR "LRP5-related")

Run this search on Europe PMC

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"

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 (12688) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T21:12:37.133Z