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posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

MONDO:0008650

Also known as:Faulk-Epstein-Jones syndromecongenital ptosis and posterior fusion of lumbosacral vertebraefamilial posterior lumbosacral vertebral fusion and eyelid ptosis

Overview

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.

GeneticsAutosomal dominant

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: Abnormality of metabolism/homeostasis, Congenital ptosis, and Posterior fusion of lumbosacral vertebrae.

Organ System	Phenotype Count	Example Features
Metabolism	1	Abnormality of metabolism/homeostasis
Eyes

Diagnosis

Biomarker and diagnostic research for posterior fusion of lumbosacral vertebrae-blepharoptosis 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 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome.

121 publications have been identified in PubMed for posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome. Research spans Review / Meta-Analysis (69%), Basic Science / Preclinical (7%), and Case Report / Case Series (7%).

Research Type	Count	% of Total
Research summaries	84	69%

Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 4:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:192800

Orphanet

European rare disease database

Orphanet:2064

GARD

Genetic and Rare Diseases Info Center

GARD:2276

Questions for Your Care Team

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Kisho

posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications