ORPHA:3250
Proximal symphalangism
Also known as: Symphalangism, Cushing type
Publications
181
57.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,014
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008511
- MeSH:C536223
- UMLS:C1861385
Additional Mondo synonyms (3)
proximal symphalangism · proximal symphalangism (disease) · symphalangism, Cushing type
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
181 matched papers (62 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?
181
181 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.
181 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).
62 in the last 10 years · high confidence · 57.8th percentile (publications denominator)
Phrase hits: 181 · MeSH hits: 0
Who's working on it?
1,014
Distinct author names in 181 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.
- 01Mundlos S10 papers · 2023
Institut für medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 02Seemann P8 papers · 2015
Institut für Medizinische Genetik, Charité, Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 03Krakow D6 papers · 2023
Departments of Obstetrics and Gynecology, Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
Papers in Europe PMC - 04Nishimura G5 papers · 2023
Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.
Papers in Europe PMC - 05Wang X5 papers · 2024
Human Genome Research Center and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, P. R. China.
Papers in Europe PMC - 06Cremers CW4 papers · 2011Papers in Europe PMC
- 07Kaplan FS4 papers · 2024
Department of Orthopaedic Surgery, Perelman School of Medicine, Center for Research in FOP and Related Disorders, Perelman School of Medicine, Department of Medicine, Perelman School of Medicine.
Papers in Europe PMC - 08Lesperance MM4 papers · 2015Papers in Europe PMC
- 09Nickel J4 papers · 2015
Lehrstuhl für Tissue Engineering und Regenerative Medizin, Universitätsklinikum Würzburg, Röntgenring 11, D-97070, Würzburg, Germany. joachim.nickel@uni-wuerzburg.de.
Papers in Europe PMC - 10Shore EM4 papers · 2024
Department of Orthopaedic Surgery, Perelman School of Medicine, Center for Research in FOP and Related Disorders, Perelman School of Medicine, Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia 19104 PA, 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).
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 symphalangism 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: symphalangism
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.
"Proximal symphalangism" OR "Symphalangism, Cushing type" OR "proximal symphalangism (disease)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Proximal symphalangism" OR "Symphalangism, Cushing type" OR "proximal symphalangism (disease)"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"symphalangism"
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 2026-07-26T22:38:23.805Z