ORPHA:93321
Isolated radial hemimelia
Also known as: Isolated congenital longitudinal deficiency of the radius · Isolated radial club hand · Isolated radial longitidinal meromelia · Isolated radial ray agenesis
Publications
339
77.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,092
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare limb characterized by partial or total absence of the radius.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019671
- UMLS:C0265581
Additional Mondo synonyms (4)
congenital longitudinal deficiency of the radius · radial clubhand · radial longitidinal meromelia · radial ray agenesis
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
339 matched papers (185 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 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?
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?
339
339 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.
339 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).
185 in the last 10 years · high confidence · 77.5th percentile (publications denominator)
Phrase hits: 339 · MeSH hits: 0
Who's working on it?
1,092
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.
- 01Wang Y5 papers · 2022
Department of Cardiology, Beijing Luhe Hospital, 541596Capital Medical University, Beijing, China.
Papers in Europe PMC - 02Wang L4 papers · 2025
Department of Pediatric Surgery, Shanghai Jiao Tong University Medical School Affiliated Ruijin Hospital, Shanghai, People's Republic of China.
Papers in Europe PMC - 03Aminian A2 papers · 2017
Division of Cardiology, Centre Hospitalier Universitaire de Charleroi, Charleroi, Belgium.
Papers in Europe PMC - 04Bartuś S2 papers · 2024
Department of Cardiology and Cardiovascular Interventions, University Hospital, 2 Jakubowskiego Street, 30-688 Cracow, Poland.
Papers in Europe PMC - 05Bohn DC2 papers · 2021
Department of Orthopaedic Surgery, St Louis Shriners Hospital for Children and St Louis Childrens Hospital, Washington University School of Medicine, St. Louis, MO; Gillette Childrens Specialty Care, St. Paul, MN; Department of Orthopaedic Surgery, University of Minnesota, Minneapolis, MN.
Papers in Europe PMC - 06Burgess RC2 papers · 2016Papers in Europe PMC
- 07Chyrchel M2 papers · 2024
Department of Cardiology and Cardiovascular Interventions, University Hospital, 2 Jakubowskiego Street, 30-688 Cracow, Poland.
Papers in Europe PMC - 08Dijkman RR2 papers · 2016
Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, The Netherlands. Electronic address: r.dijkman@erasmusmc.nl.
Papers in Europe PMC - 09Dolatabadi D2 papers · 2017
Centre Hospitalier Universitaire de Charleroi, Charleroi, Belgium.
Papers in Europe PMC - 10Dziewierz A2 papers · 2024
Department of Cardiology and Cardiovascular Interventions, University Hospital, 2 Jakubowskiego Street, 30-688 Cracow, Poland.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Broader category hemimelia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: hemimelia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Observational and natural-history studies
1 observational study matches 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.
"Isolated radial hemimelia" OR "Isolated congenital longitudinal deficiency of the radius" OR "Isolated congenital longitudinal deficiency of radius" OR "Isolated radial club hand" OR "Isolated radial longitidinal meromelia" OR "Isolated radial ray agenesis" OR "congenital longitudinal deficiency of the radius" OR "congenital longitudinal deficiency of radius" OR "radial clubhand" OR "radial longitidinal meromelia" OR "radial ray agenesis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated radial hemimelia" OR "Isolated congenital longitudinal deficiency of the radius" OR "Isolated congenital longitudinal deficiency of radius" OR "Isolated radial club hand" OR "Isolated radial longitidinal meromelia" OR "Isolated radial ray agenesis" OR "congenital longitudinal deficiency of the radius" OR "congenital longitudinal deficiency of radius" OR "radial clubhand" OR "radial longitidinal meromelia" OR "radial ray agenesis"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hemimelia"
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
Ingested 2026-07-27T04:15:13.939Z