ORPHA:3265
Isolated humero-radial synostosis
Also known as: Isolated congenital humeroradial fusion
Publications
69
44.5th percentile
Trials
0
Interventional, condition-specific
Researchers
378
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Humero-radial synostosis is a rare, genetic, joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.
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:0007737
- OMIM:143050
- UMLS:C2930865
Additional Mondo synonyms (3)
humero-radial fusion · humeroradial synostosis · humeroradial synostosis (disease)
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
69 matched papers (31 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 synostosis
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?
69
69 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.
69 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).
31 in the last 10 years · high confidence · 44.5th percentile (publications denominator)
Phrase hits: 69 · MeSH hits: 0
Who's working on it?
378
Distinct author names in 69 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.
- 01Kavak RP4 papers · 2020
University of Health Sciences, Dışkapı Yıldırım Beyazıt Training and Research Hospital, Department of Radiology, Ankara, Turkey.
Papers in Europe PMC - 02Kantaputra PN3 papers · 2021
Department of Paediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Thailand.
Papers in Europe PMC - 03Al Kaissi A2 papers · 2014
Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Austria-Heinrich Collin Staße, 1140 Vienna, Austria ; Orthopaedic Hospital of Speising, Paediatric Department, Speisinger Staße 109, 1130 Vienna, Austria.
Papers in Europe PMC - 04Dejkhamron P2 papers · 2021
Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Papers in Europe PMC - 05Inal HS2 papers · 2025
Department of Physiotherapy and Rehabilitation, Faculty of Health Sciences, Istanbul Galata University, Istanbul, Turkey.
Papers in Europe PMC - 06Intachai W2 papers · 2021
Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.
Papers in Europe PMC - 07Marohnic CC2 papers · 2011
The University of Texas Health Science Center at San Antonio, Department of Biochemistry, USA. masters@uthscsa.edu
Papers in Europe PMC - 08Masters BS2 papers · 2011Papers in Europe PMC
- 09Ngamphiw C2 papers · 2021
National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency, Pathum Thani, Thailand.
Papers in Europe PMC - 10Olsen B2 papers · 2021
Department of Developmental Biology, Harvard School of Dental Medicine, Boston, MA, 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 synostosis, 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 synostosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: synostosis
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.
Recruiting under the broader category
- NCT07162233·NOT YET RECRUITING·Surgical Corection of Congenital Proximal Radioulnar Synostosis Using Double Osteotomy Technique.
Conditions: Synostosis·Matched via name phrase
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 humero-radial synostosis" OR "Isolated congenital humeroradial fusion" OR "humero-radial fusion" OR "humeroradial synostosis" OR "humeroradial synostosis (disease)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated humero-radial synostosis" OR "Isolated congenital humeroradial fusion" OR "humero-radial fusion" OR "humeroradial synostosis" OR "humeroradial synostosis (disease)"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"synostosis"
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 2026-07-26T22:42:07.419Z