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jaw-winking syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

jaw-winking syndrome

MONDO:0007946

Also known as:Marcus Gunn PhenomenonMarcus Gunn syndromeMaxillopalpebral synkinesis

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Overview

Marcus-Gunn syndrome is characterized by ptosis associated with maxillopalpebral synkinesis.

GeneticsAutosomal dominant

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Features include: Congenital ptosis and Unilateral ptosis.

Organ System	Phenotype Count	Example Features
Eyes	2	Congenital ptosis, Unilateral ptosis
Pregnancy and birth	1	Congenital ptosis

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Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

15 publications have been identified in PubMed for jaw-winking syndrome. Research spans Case Report / Case Series (47%), Review / Meta-Analysis (20%), and Clinical Trial Publication (20%).

Research Type	Count	% of Total
Patient case studies	7	47%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:154600

Orphanet

European rare disease database

Orphanet:91412

GARD

Genetic and Rare Diseases Info Center

GARD:6972

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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jaw-winking syndrome

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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