ORPHA:91412
Marcus-Gunn syndrome
Also known as: Jaw-winking syndrome · Mandibulo-palpebral synkinesis-ptosis syndrome · Marcus-Gunn phenomenon
Publications
628
80.3th percentile
Trials
0
Interventional, condition-specific
Researchers
963
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare ophthalmic disorder characterized by ptosis associated with pterygoid-levator synkinesis (also called jaw-winking).
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:0007946
- MeSH:C535908
- OMIM:154600
- UMLS:C0266521
Additional Mondo synonyms (7)
Marcus Gunn Phenomenon · Marcus Gunn phenomenon · Marcus Gunn syndrome · Maxillopalpebral synkinesis · jaw-winking · jaw-winking syndrome · mandibulo-palpebral synkinesis-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.”
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
628 matched papers (222 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?
628
628 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.
628 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).
222 in the last 10 years · high confidence · 80.3th percentile (publications denominator)
Phrase hits: 628 · MeSH hits: 13
Who's working on it?
963
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.
- 01
- 02
- 03Zhang H5 papers · 2025
Eye Center, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang, China.
Papers in Europe PMC - 04Qiao Y4 papers · 2020
Shaanxi Provincial Eye Research Institute and Xi'an Eye Hospital Xi'an, Shaanxi 710002, China.
Papers in Europe PMC - 05Rajabi MT4 papers · 2026
Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Papers in Europe PMC - 06Ye J4 papers · 2026
Eye Center, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang, China. yejuan@zju.edu.cn.
Papers in Europe PMC - 07Alam MS3 papers · 2024
Orbit, Oculoplasty, Reconstructive and Aesthetic Services, Aditya Birla Sankara Nethralaya, (A Unit of Medical Research Foundation, Chennai) Kolkata, West Bengal, India.
Papers in Europe PMC - 08Alsuhaibani AH3 papers · 2025
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Papers in Europe PMC - 09Bai P3 papers · 2025
Department of Ophthalmology, Affiliated Hospital of Yunnan University, Second People's Hospital of Yunnan Province, Key Laboratory of Yunnan Province, Yunnan Eye Institute.
Papers in Europe PMC - 10Li J3 papers · 2025
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
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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
- NCT03059420·RECRUITING·Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
Conditions: Congenital Fibrosis of Extraocular Muscles · Duane Retraction Syndrome · Duane Radial Ray Syndrome · Mobius Syndrome·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.
"Marcus-Gunn syndrome" OR "Jaw-winking syndrome" OR "Mandibulo-palpebral synkinesis-ptosis syndrome" OR "Marcus-Gunn phenomenon" OR "Marcus Gunn Phenomenon" OR "Marcus Gunn syndrome" OR "Maxillopalpebral synkinesis" OR "jaw-winking"
MeSH descriptor terms unioned into the query: Marcus Gunn phenomenon
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Marcus-Gunn syndrome" OR "Jaw-winking syndrome" OR "Mandibulo-palpebral synkinesis-ptosis syndrome" OR "Marcus-Gunn phenomenon" OR "Marcus Gunn Phenomenon" OR "Marcus Gunn syndrome" OR "Maxillopalpebral synkinesis" OR "jaw-winking"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
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 2026-07-27T04:02:04.717Z