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familial congenital palsy of trochlear nerve - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial congenital palsy of trochlear nerve

MONDO:0007626

Also known as:hereditary fourth cranial nerve palsyfourth cranial nerve palsy, familial congenitalstrabismus from Superior oblique palsy

Overview

An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome.

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Superior oblique muscle weakness, Fourth cranial nerve palsy, Abnormal visual fixation, and Impaired ocular adduction and 1 more.

Organ System	Phenotype Count	Example Features
Eyes	2	Impaired ocular adduction, Abnormality of binocular vision

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 familial congenital palsy of trochlear nerve.

1 publication has been identified in PubMed for familial congenital palsy of trochlear nerve. Research spans Basic Science / Preclinical (100%).

Recent Publications

Jurgens JA (2024). [PMID: 38585811](https://pubmed.ncbi.nlm.nih.gov/38585811/). *medRxiv : the preprint server for health sciences*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:136480

Orphanet

European rare disease database

Orphanet:91498

GARD

Genetic and Rare Diseases Info Center

GARD:10355

Questions for Your Care Team

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familial congenital palsy of trochlear nerve

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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