ORPHA:295020
Congenital pseudoarthrosis of the femur
Also known as: Congenital pseudarthrosis of the femur
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
8
12.1th percentile
Trials
0
Interventional, condition-specific
Researchers
28
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare bone development disorder characterized by abnormal bowing and subsequent non-healing fracture of the femur resulting in the formation of a false joint (pseudoarthrosis), which is already present at birth. The affected bone is shortened and angulated at the site of the pseudoarthrosis. hip and absence of the patella have been reported in association.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017463
- UMLS:C5679939
Additional Mondo synonyms (1)
congenital pseudarthrosis of the femur
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
8 matched papers (2 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?
8
8 papers have ever been indexed 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.
8 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).
2 in the last 10 years · high confidence · 12.1th percentile (publications denominator)
Phrase hits: 8 · MeSH hits: 0
Who's working on it?
28
Distinct author names in 8 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.
- 01Aggarwal A1 paper · 2024
Department of Orthopaedics, All India Institute of Medical Sciences, Jodhpur, Rajasthan - 342005, India.
Papers in Europe PMC - 02Ahmed GS1 paper · 2000Papers in Europe PMC
- 03Al Summan AA1 paper · 2000Papers in Europe PMC
- 04Al-Hathal MM1 paper · 2000
Department of Pediatrics, King Fahad National Guard Hospital, Riyadh, Saudi Arabia.
Papers in Europe PMC - 05Al-Tawil KI1 paper · 2000Papers in Europe PMC
- 06Almohrij S1 paper · 2000Papers in Europe PMC
- 07Banerjee S1 paper · 2024
Department of Orthopaedics, All India Institute of Medical Sciences, Jodhpur, Rajasthan - 342005, India.
Papers in Europe PMC - 08Carozzi S1 paper · 1986Papers in Europe PMC
- 09Chiba A1 paper · 1977Papers in Europe PMC
- 10Corradini C1 paper · 1971Papers 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Congenital pseudoarthrosis of the femur" OR "Congenital pseudoarthrosis of femur" OR "Congenital pseudarthrosis of the femur" OR "Congenital pseudarthrosis of femur"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital pseudoarthrosis of the femur" OR "Congenital pseudoarthrosis of femur" OR "Congenital pseudarthrosis of the femur" OR "Congenital pseudarthrosis of femur" OR "congenital pseudoarthrosis of the limbs"
Recall-expansion terms: congenital pseudoarthrosis of the limbs
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T12:31:51.479Z