ORPHA:2497
Upper limb mesomelic dysplasia, type Fryns
Also known as: Fryns-Hofkens-Fabry syndrome
Publications
67
42.4th percentile
Trials
0
Interventional, condition-specific
Researchers
294
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary bone characterized by isolated upper limb mesomelic . Patients present with ulnar hypoplasia with severe radial bowing, but normal stature.
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:0008620
- MeSH:C538069
- OMIM:191440
- UMLS:C5574958
Additional Mondo synonyms (1)
upper limb mesomelic dysplasia
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
67 matched papers (28 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?
67
67 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.
67 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).
28 in the last 10 years · high confidence · 42.4th percentile (publications denominator)
Phrase hits: 67 · MeSH hits: 0
Who's working on it?
294
Distinct author names in 67 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.
- 01Vannuscorps G4 papers · 2018
Center for Mind/Brain Sciences, Università degli Studi di Trento, Mattarello, 38122, Italy; Department of Psychology, Harvard University, Cambridge, MA 02138; Institute of Psychological Sciences, Université catholique de Louvain, Louvain-la-Neuve, 1348, Belgium gvannuscorps@fas.harvard.edu.
Papers in Europe PMC - 02Caramazza A3 papers · 2018
Center for Mind/Brain Sciences, Università degli Studi di Trento, Mattarello, 38122, Italy; Department of Psychology, Harvard University, Cambridge, MA 02138;
Papers in Europe PMC - 03Hutson JM2 papers · 2004Papers in Europe PMC
- 04Jackson M2 papers · 2024
Genetics and Genomics, The Roslin Institute R(D)SVS, CMVM, University of Edinburgh, Edinburgh EH25 9RG, UK.
Papers in Europe PMC - 05Kato H2 papers · 1990
Department of Orthopaedic Surgery, Hokkaido University School of Medicine, Japan.
Papers in Europe PMC - 06Kavak RP2 papers · 2019
Department of Radiology, University of Health Sciences, Dışkapı Yıldırım Beyazıt Training and Research Hospital, Ankara, Turkey.
Papers in Europe PMC - 07McTeir L2 papers · 2024
Functional Genetics, The Roslin Institute R(D)SVS, CMVM, University of Edinburgh, Edinburgh EH25 9RG, UK.
Papers in Europe PMC - 08Ogino T2 papers · 1990
Department of Orthopedic Surgery, School of Medicine, Hokkaido University, Sapporo, Japan.
Papers in Europe PMC - 09Omer GE Jr2 papers · 1985Papers in Europe PMC
- 10Riley SA2 papers · 2020
Shriners Hospitals for Children, Lexington Medical Center.
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 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 mesomelic dysplasia 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: mesomelic dysplasia
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.
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.
"Upper limb mesomelic dysplasia, type Fryns" OR "Fryns-Hofkens-Fabry syndrome" OR "upper limb mesomelic dysplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Upper limb mesomelic dysplasia, type Fryns" OR "Fryns-Hofkens-Fabry syndrome" OR "upper limb mesomelic dysplasia"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"mesomelic dysplasia"
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 2026-07-26T20:21:23.115Z