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ORPHA:240

Léri-Weill dyschondrosteosis

low confidenceDisorder

Also known as: Léri-Weill syndrome

Publications

2,207

Trials

0

Interventional, condition-specific

Researchers

1,204

Distinct authors in sample

Gene link

SHOX

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic skeletal marked by disproportionate short stature and the characteristic Madelung wrist deformity.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

LWD · Leri Weill dyschondrosteosis · Leri-Weill dyschondrosteosis · Leri-Weill dyschondrosteosis, Pseudoautosomal dominant · Leri-Weill dyschondrostosis · Leri-Weill syndrome

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 matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — SHOX

  2. LiteraturePresent

    2,207 matched papers (1,268 in last 10 years) Source

  3. Phenotype characterisedPresent

    62 HPO annotations (e.g. Abnormal humerus morphology; Wide nasal bridge; Abnormal metaphysis morphology) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (SHOX).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

62

Associated phenotypes · MONDO:0007481

  • Abnormal humerus morphology
  • Wide nasal bridge
  • Abnormal metaphysis morphology
  • Brachydactyly
  • Abnormal carpal morphology

Showing 5 of 62 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

2,207

2,207 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=3967) is 59.

2,207 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).

1,268 in the last 10 years · low confidence

Phrase hits: 566 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,204

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.

  1. 01
    Fukami M10 papers · 2025

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.

    Papers in Europe PMC
  2. 02
    Heath KE10 papers · 2019

    Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ and Skeletal dysplasia multidisciplinary unit (UMDE), Hospital Universitario La Paz, Universidad Autónoma de Madrid, P° Castellana 261, 28046, Madrid, Spain. karen.heath@salud.madrid.org.

    Papers in Europe PMC
  3. 03
    Ogata T9 papers · 2025

    Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan.

    Papers in Europe PMC
  4. 04
    Benito-Sanz S7 papers · 2018

    Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, and Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, 28046 Madrid, Spain.

    Papers in Europe PMC
  5. 05
    Rappold GA6 papers · 2026

    Department of Human Molecular Genetics, Heidelberg University, 69120, Heidelberg, Germany. gudrun.rappold@med.uni-heidelberg.de.

    Papers in Europe PMC
  6. 06
    Wang H6 papers · 2026

    Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  7. 07
    Wang Y6 papers · 2026

    Department of Obstetrics, Lishui Maternal and Child Health Hospital, Lishui, 323000, China.

    Papers in Europe PMC
  8. 08
    Huang H5 papers · 2025

    Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, 350001, People's Republic of China.

    Papers in Europe PMC
  9. 09
    Jinno T5 papers · 2019

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

    Papers in Europe PMC
  10. 10
    Schmitt S5 papers · 2026

    Laboratory of Molecular Genetics, Institute of Biology, CHU de Nantes, Nantes, France.

    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).

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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Léri-Weill dyschondrosteosis — 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.

("Léri-Weill dyschondrosteosis" OR "Léri-Weill syndrome" OR "Leri Weill dyschondrosteosis" OR "Leri-Weill dyschondrosteosis" OR "Leri-Weill dyschondrosteosis, Pseudoautosomal dominant" OR "Leri-Weill dyschondrostosis" OR "Leri-Weill syndrome") OR ("SHOX" OR "SHOX syndrome" OR "SHOX-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Léri-Weill dyschondrosteosis" OR "Léri-Weill syndrome" OR "Leri Weill dyschondrosteosis" OR "Leri-Weill dyschondrosteosis" OR "Leri-Weill dyschondrosteosis, Pseudoautosomal dominant" OR "Leri-Weill dyschondrostosis" OR "Leri-Weill syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LWD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2207) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:02:23.453Z