ORPHA:99172
Euryblepharon
Clinical definition (Orphanet)
Euryblepharon is a rare eyelid anomaly of unknown characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.
Is anyone studying this?
88
88 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=183) is 38.
88 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
45 in the last 10 years · medium confidence · 53.6th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
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.
Who's working on it?
486
Distinct author names in 88 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.
- 01Leiva M4 papers · 2025
Departament de Medicina i Cirurgia Animal, Facultat de Veterinària, Universitat Autònoma de Barcelona, Edific V, Campus UAB, Bellaterra, Barcelona, 08193, Spain.
Papers in Europe PMC - 02Heralgi MM3 papers · 2023
Cornea Refractive Services, Sankara Eye Hospital, Harakere, Shimoga, Karnataka, India.
Papers in Europe PMC - 03Kavitha V3 papers · 2023
Department of Pediatric Ophthalmology, Sankara Eye Hospital, Harakere, Shimoga, Karnataka, India.
Papers in Europe PMC - 04Lacerda RP3 papers · 2025
Servei d'Oftalmologia, Fundació Hospital Clínic Veterinari, Carrer del Hospital s/n, Bellaterra, Barcelona, 08193, Spain.
Papers in Europe PMC - 05Laguna F3 papers · 2025
Servei d'Oftalmologia, Fundació Hospital Clínic Veterinari, Carrer del Hospital s/n, Bellaterra, Barcelona, 08193, Spain.
Papers in Europe PMC - 06Agrawal S2 papers · 2022
Ophthalmology, Dr Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, Delhi, India.
Papers in Europe PMC - 07Bajaj MS2 papers · 2022
Oculoplasty Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All Institute of Medical Sciences, New Delhi, India.
Papers in Europe PMC - 08Castori M2 papers · 2019
Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71043 San Giovanni Rotondo (Foggia), Italy.
Papers in Europe PMC - 09Das D2 papers · 2022
Ophthalmology, Dr Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, Delhi, India doc.deep.das@gmail.com.
Papers in Europe PMC - 10Goldberg RA2 papers · 2009Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below but are not added to the query string.
"Euryblepharon"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Euryblepharon"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C1303001
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus