ORPHA:1234
Bartsocas-Papas syndrome
Also known as: Autosomal recessive popliteal pterygium syndrome · Lethal popliteal pterygium syndrome
Publications
114
54.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,066
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the period, but patients living until childhood have been reported.
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.
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
114 matched papers (54 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?
114
114 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.
114 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).
54 in the last 10 years · high confidence · 54.7th percentile (publications denominator)
Phrase hits: 114 · MeSH hits: 0
Who's working on it?
1,066
Distinct author names in 114 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.
- 01Dixon MJ6 papers · 2022
Faculty of Life Sciences and Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, United Kingdom. Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA. Department of Genetics, Helsinki University Central Hospital, Helsinki, Finland. Public Health Genomics Unit, National Institute for Health and Welfare, Helsinki University Hospital, Helsinki, Finland. Department of Medical Genetics, Väestöliitto, Helsinki, Finland. The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, United Kingdom. Department of Pathology, Helsinki University Hospital, Helsinki, Finland.
Papers in Europe PMC - 02Schutte BC6 papers · 2017
Departments of Microbiology and Molecular Genetics, Pediatrics and Human Development, Michigan State University, East Lansing, MI.
Papers in Europe PMC - 03Gül T5 papers · 2016
Department of Obstetrics and Gynecology, Dicle University School of Medicine, Diyarbakır, Turkey
Papers in Europe PMC - 04Murray JC5 papers · 2018
Department of Pediatrics, University of Iowa, Iowa City, IA.
Papers in Europe PMC - 05Toğrul C5 papers · 2016
Department of Obstetrics and Gynecology, Zekai Tahir Burak Women’s Health and Research Hospital, Ankara, Turkey
Papers in Europe PMC - 06Yılmaz N5 papers · 2016
Zekai Tahir Burak Obstetrics and Gynecology Training and Research Hospital, Ankara, Turkey
Papers in Europe PMC - 07Ağaçayak E4 papers · 2016
Department of Obstetrics and Gynecology, Dicle University School of Medicine, Diyarbakır, Turkey
Papers in Europe PMC - 08Çoşkun B4 papers · 2016
Clinic of Gynecology and Obstetrics, Polatlı Duatepe State Hospital, Ankara, Turkey
Papers in Europe PMC - 09Dixon J4 papers · 2019
Faculty of Medical and Human Sciences, University of Manchester, Michael Smith Building, Oxford Road, Manchester, M13 9PT, UK.
Papers in Europe PMC - 10Dunnwald M4 papers · 2016
Department of Pediatrics, The University of Iowa, Iowa City, IA, United States of America.
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.
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.
"Bartsocas-Papas syndrome" OR "Autosomal recessive popliteal pterygium syndrome" OR "Lethal popliteal pterygium syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Bartsocas-Papas syndrome" OR "Autosomal recessive popliteal pterygium syndrome" OR "Lethal popliteal pterygium syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-26T16:47:10.747Z