ORPHA:126
Blepharophimosis-ptosis-epicanthus inversus syndrome
Also known as: BPES
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
592
82.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,090
Distinct authors in sample
Gene link
FOXL2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).
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:0007201
- MeSH:C562419
- OMIM:110100
- UMLS:C0220663
Additional Mondo synonyms (8)
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome · blepharophimosis types 1 and 2 · blepharophimosis, epicanthus inversus, and ptosis, type 1 · blepharophimosis, epicanthus inversus, and ptosis, type 2 · blepharophimosis, ptosis, and epicanthus inversus · blepharophimosis, ptosis, and epicanthus inversus syndrome · blepharophimosis, ptosis, epicanthus inversus syndrome · blepharophimosis-epicanthus inversus-ptosis 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 — FOXL2
- LiteraturePresent
592 matched papers (254 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 (FOXL2).
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?
592
592 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
592 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).
254 in the last 10 years · medium confidence · 82.1th percentile (publications denominator)
Phrase hits: 592 · MeSH hits: 0
Who's working on it?
1,090
Distinct author names in 200 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.
- 01De Baere E9 papers · 2026
Center for Medical Genetics, Ghent University, Ghent University Hospital, Ghent, Belgium.
Papers in Europe PMC - 02Wang T8 papers · 2024
The 3rd Department, Plastic Surgery Hospital of the Chinese Academy of Medical Sciences, Peking Union Medical College, Badachu Road, Shijingshan District, No. 33, Beijing, 100041, China. tailing.cn.wang@gmail.com.
Papers in Europe PMC - 03Li H7 papers · 2025
The State Key Laboratory of Medical Genetics, Central South University , Changsha, China.
Papers in Europe PMC - 04Wang J7 papers · 2024
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, China.
Papers in Europe PMC - 05Li J6 papers · 2024
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, China.
Papers in Europe PMC - 06Verdin H6 papers · 2026
Center for Medical Genetics, Ghent University, Ghent University Hospital, Ghent, Belgium.
Papers in Europe PMC - 07Wang Y6 papers · 2025
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, China.
Papers in Europe PMC - 08Zhou Y6 papers · 2025
College of Animal Science and Technology, Jilin Agricultural University, Changchun, 130118, China.
Papers in Europe PMC - 09Ge S5 papers · 2022
Department of Ophthalmology, Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 10Jia R5 papers · 2019
Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China.
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.
medium 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.
"Blepharophimosis-ptosis-epicanthus inversus syndrome" OR "Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome" OR "blepharophimosis types 1 and 2" OR "blepharophimosis, epicanthus inversus, and ptosis, type 1" OR "blepharophimosis, epicanthus inversus, and ptosis, type 2" OR "blepharophimosis, ptosis, and epicanthus inversus" OR "blepharophimosis, ptosis, and epicanthus inversus syndrome" OR "blepharophimosis-epicanthus inversus-ptosis syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Blepharophimosis-ptosis-epicanthus inversus syndrome" OR "Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome" OR "blepharophimosis types 1 and 2" OR "blepharophimosis, epicanthus inversus, and ptosis, type 1" OR "blepharophimosis, epicanthus inversus, and ptosis, type 2" OR "blepharophimosis, ptosis, and epicanthus inversus" OR "blepharophimosis, ptosis, and epicanthus inversus syndrome" OR "blepharophimosis-epicanthus inversus-ptosis syndrome" OR "FOXL2"
Recall-expansion terms: FOXL2
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
Synonyms dropped by stoplist: BPES
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T12:32:00.193Z