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ptosis-strabismus-ectopic pupils syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ptosis-strabismus-ectopic pupils syndrome

MONDO:0008341

Also known as:McPherson-Hall syndromeptosis strabismus ectopic pupilsptosis, strabismus, and ectopic pupils

Overview

Ptosis-strabismus-ectopic pupils syndrome is characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.

GeneticsAutosomal dominant

Clinical Presentation

Features include: Strabismus and Ptosis.

Organ System	Phenotype Count	Example Features
Eyes	2	Strabismus, Ptosis

Explore clinical features

Diagnosis

Biomarker and diagnostic research for ptosis-strabismus-ectopic pupils syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

No clinical trials have been registered for ptosis-strabismus-ectopic pupils syndrome.

278 publications have been identified in PubMed for ptosis-strabismus-ectopic pupils syndrome. Kisho has analyzed 170 by research type. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (13%), and Clinical Trial Publication (12%).

Research Type	Count	% of Total
Patient case studies	73	43%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:178330

Orphanet

European rare disease database

Orphanet:2999

GARD

Genetic and Rare Diseases Info Center

GARD:4577

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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ptosis-strabismus-ectopic pupils syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

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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