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ptosis, hereditary congenital, 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ptosis, hereditary congenital, 1

MONDO:0008340

Also known as:congenital eyelid ptosiscongenital ptosiscongenital ptosis (disease)

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Overview

Congenital ptosis is characterized by superior eyelid drop present at birth.

GeneticsAutosomal dominant

Clinical Trials2 registered · 1 recruiting

Clinical Presentation

Features include: Congenital ptosis.

Organ System	Phenotype Count	Example Features
Eyes	1	Congenital 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.

2 clinical trials registered, 1 recruiting. Interventions under study include other interventions and procedural interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

156 publications have been identified in PubMed for ptosis, hereditary congenital, 1. Kisho has analyzed 68 by research type. Research spans Clinical Trial Publication (47%), Case Report / Case Series (16%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Clinical study results	32

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:178300

Orphanet

European rare disease database

Orphanet:91411

GARD

Genetic and Rare Diseases Info Center

GARD:16798

Questions for Your Care Team

→Are any of the 2 active clinical trials 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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ptosis, hereditary congenital, 1

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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