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blepharonasofacial malformation syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

blepharonasofacial malformation syndrome

MONDO:0007200

Also known as:Pashayan syndromePashayan-Prozansky syndrome

Overview

Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.

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: Facial palsy, Mask-like facies, Telecanthus, and Intellectual disability and 1 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Intellectual disability, Torsion dystonia
Head and neck

Diagnosis

Biomarker and diagnostic research for blepharonasofacial malformation 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 blepharonasofacial malformation syndrome.

166 publications have been identified in PubMed for blepharonasofacial malformation syndrome. Research spans Review / Meta-Analysis (49%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Research summaries	81	49%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:110050

Orphanet

European rare disease database

Orphanet:1252

GARD

Genetic and Rare Diseases Info Center

GARD:4238

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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blepharonasofacial malformation 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

blepharonasofacial malformation 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