ORPHA:1300
Autosomal dominant popliteal pterygium syndrome
Also known as: Facio-genito-popliteal syndrome · Popliteal web syndrome
Publications
29
19.9th percentile
Trials
0
Interventional, condition-specific
Researchers
100
Distinct authors in sample
Gene link
IRF6
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic, multiple anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007334
- OMIM:119500
- UMLS:C5848052
Additional Mondo synonyms (3)
popliteal pterygium syndrome 1 · popliteal pterygium syndrome, autosomal dominant · popliteal web syndrome
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — IRF6
- LiteraturePresent
29 matched papers (5 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?
Yes — we know a specific gene responsible (IRF6).
GenCC classification: Definitive.
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?
29
29 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.
29 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).
5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)
Phrase hits: 29 · MeSH hits: 0
Who's working on it?
100
Distinct author names in 29 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 MJ2 papers · 2019
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 - 02Escobar V2 papers · 1978Papers in Europe PMC
- 03Hammond NL2 papers · 2019
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 - 04Aiello CM1 paper · 2020
Neonatal Intensive Care Unit, Department of Health Promotion, Mother-Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University Hospital "P. Giaccone", Via Alfonso Giordano n. 3, 90127, Palermo, Italy.
Papers in Europe PMC - 05Al Kaissi A1 paper · 2013
First Medical Department, Hanusch Hospital, Ludwig-Boltzmann Institute of Osteology, Hanusch Hospital of WGKK, AUVA Trauma Center Meidling, Vienna, Austria; Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria.
Papers in Europe PMC - 06Ali SR1 paper · 2021
Internal Medicine, Dow University of Health Sciences, Civil Hospital Karachi, Karachi, PAK.
Papers in Europe PMC - 07Antona V1 paper · 2020
Neonatal Intensive Care Unit, Department of Health Promotion, Mother-Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University Hospital "P. Giaccone", Via Alfonso Giordano n. 3, 90127, Palermo, Italy.
Papers in Europe PMC - 08Anvekar P1 paper · 2021
Pediatrics, Mahatma Gandhi Mission Medical College and Hospital, Mumbai, IND.
Papers in Europe PMC - 09Arand J1 paper · 2017
Department of Neonatology, Tuebingen University Hospital, Calwerstrasse 7, 72076, Tuebingen, Germany.
Papers in Europe PMC - 10Bacher M1 paper · 2017
BIP - Orthodontic Practice, Schweickhardtstrasse 11, 72072, Tübingen, Germany.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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 popliteal pterygium syndrome 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: popliteal pterygium syndrome
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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06730880·NOT YET RECRUITING·Detection of Single Nucleotide Polymorphism (SNP) Rs2235371 of IRF6 Gene in Egyptian Patients with Non-Syndromic Cleft Lip and Palate
Conditions: Cleft Lip and Cleft Palate·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.
"Autosomal dominant popliteal pterygium syndrome" OR "Facio-genito-popliteal syndrome" OR "Popliteal web syndrome" OR "popliteal pterygium syndrome 1" OR "popliteal pterygium syndrome, autosomal dominant"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant popliteal pterygium syndrome" OR "Facio-genito-popliteal syndrome" OR "Popliteal web syndrome" OR "popliteal pterygium syndrome 1" OR "popliteal pterygium syndrome, autosomal dominant" OR "IRF6" OR "autosomal genetic disease"
Recall-expansion terms: IRF6, autosomal genetic disease
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"popliteal pterygium syndrome"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-26T16:56:40.381Z